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For: Lemos MC, Thakker RV. Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations. Hum Mutat 2020;41:1341-1350. [PMID: 32442337 DOI: 10.1002/humu.24052] [Citation(s) in RCA: 23] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2020] [Revised: 04/28/2020] [Accepted: 05/16/2020] [Indexed: 12/12/2022]

For:	Lemos MC, Thakker RV. Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations. Hum Mutat 2020;41:1341-1350. [PMID: 32442337 DOI: 10.1002/humu.24052] [Citation(s) in RCA: 23] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2020] [Revised: 04/28/2020] [Accepted: 05/16/2020] [Indexed: 12/12/2022]

Number

Cited by Other Article(s)

Pan S, Long S, Cai L, Wen J, Lin W, Chen G. Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family. Endocrine 2025;87:1194-1203. [PMID: 39505798 DOI: 10.1007/s12020-024-04087-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/19/2024] [Accepted: 10/26/2024] [Indexed: 11/08/2024]

Chen H, Zhang Y, Yang X, Li Y. Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene. Front Endocrinol (Lausanne) 2025;16:1502545. [PMID: 40013314 PMCID: PMC11860089 DOI: 10.3389/fendo.2025.1502545] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/27/2024] [Accepted: 01/21/2025] [Indexed: 02/28/2025] Open

Maldonado E, Khan I. Omics Biology in Diagnosis of Diseases: Towards Empowering Genomic Medicine from an Evolutionary Perspective. Life (Basel) 2024;14:1637. [PMID: 39768344 PMCID: PMC11679243 DOI: 10.3390/life14121637] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/29/2024] [Accepted: 12/06/2024] [Indexed: 01/11/2025] Open

Hasegawa Y, Segawa T, Chida A, Yoshida E, Kinno H, Chiba H, Oda T, Takahashi Y, Nata K, Ishigaki Y. A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family. Endocr J 2024;71:1077-1086. [PMID: 39198190 PMCID: PMC11778358 DOI: 10.1507/endocrj.ej24-0147] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/10/2024] [Accepted: 07/04/2024] [Indexed: 09/01/2024] Open

Rive Le Gouard N, Lafond-Rive V, Jonard L, Loundon N, Achard S, Heidet L, Mosnier I, Lyonnet S, Brioude F, Serey Gaut M, Marlin S. HDR syndrome: Large cohort and systematic review. Clin Genet 2024;106:564-573. [PMID: 38940299 DOI: 10.1111/cge.14583] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/21/2024] [Revised: 06/19/2024] [Accepted: 06/20/2024] [Indexed: 06/29/2024]

Affiliation(s)

Nicolas Rive Le Gouard Centre de Référence «Surdités Génétiques», Fédération de Médecine Génomique; Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France UF de Génomique Chromosomique, Département de Génétique médicale, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris Cité, Paris, France
Valentin Lafond-Rive Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland
Laurence Jonard Centre de Référence «Surdités Génétiques», Fédération de Médecine Génomique; Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France
Natalie Loundon Centre de Recherche en Audiologie (CREA), Hôpital Necker-Enfants Malades, AP-HP, Paris, France Service d'ORL Pédiatrique et de Chirurgie Cervico-Faciale, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France
Sophie Achard Centre de Recherche en Audiologie (CREA), Hôpital Necker-Enfants Malades, AP-HP, Paris, France Service d'ORL Pédiatrique et de Chirurgie Cervico-Faciale, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France
Laurence Heidet Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France
Isabelle Mosnier Unité Fonctionnelle implants auditifs, Centre Référent Implant Cochléaire Adulte Ile de France, Centre Constitutif Maladies rares, Surdités génétiques de l'adulte, Hôpital Pitié-Salpetrière, AP-HP, Sorbonne Université, Paris, France
Stanislas Lyonnet Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris Cité, Paris, France
Frederic Brioude Explorations Fonctionnelles Endocriniennes-Biologie Moléculaire, Hôpital des Enfants Armand Trousseau, AP-HP, Sorbonne Université, Paris, France
Margaux Serey Gaut Centre de Référence «Surdités Génétiques», Fédération de Médecine Génomique; Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France Centre de Recherche en Audiologie (CREA), Hôpital Necker-Enfants Malades, AP-HP, Paris, France
Sandrine Marlin Centre de Référence «Surdités Génétiques», Fédération de Médecine Génomique; Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris Cité, Paris, France Centre de Recherche en Audiologie (CREA), Hôpital Necker-Enfants Malades, AP-HP, Paris, France

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Ma LJ, Yang W, Zhang HW. HDR syndrome presented with nephrotic syndrome in a Chinese boy: A case report. World J Clin Cases 2024;12:6111-6116. [PMID: 39328859 PMCID: PMC11326111 DOI: 10.12998/wjcc.v12.i27.6111] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/19/2024] [Revised: 06/24/2024] [Accepted: 07/18/2024] [Indexed: 07/29/2024] Open

Abstract

BACKGROUND

HDR syndrome is a rare genetic disease caused by variants in the GATA3 gene and is phenotypically defined by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). Renal disorders of HDR are mainly developmental abnormalities, although renal functional abnormalities can also be observed. Nephrotic syndrome or nephrotic-level proteinuria is rare in HDR syndrome. Here, we report a Chinese infant with HDR syndrome who presented with early-onset nephrotic syndrome. We suggest that variants in the GATA3 gene might be associated with nephrotic syndrome.

CASE SUMMARY

A 9-month-old boy was hospitalized with a complaint of diarrhea. Proteinuria was detected in the patient by routine testing for 3 days. No edema, oliguria, fever or abnormal urine color were observed. Routine urinary tests at a local hospital revealed proteinuria (protein 3 +) and microscopic hematuria (red blood cells 5-10/HP). The patient was born by cesarean delivery due to placental abruption at 35 weeks + 4 days of gestation. Intrauterine growth retardation was detected beginning at 6 months of gestation. His birth weight was 1.47 kg (< P3th), length was 39 cm (< P3th), and head circumference was 28 cm (< P3th). His motor developmental milestones were obviously delayed. Clinical data were analyzed, and genetic analysis for hereditary nephrotic syndrome was performed by next-generation sequencing. The clinical data showed that the boy exhibited growth retardation, early-onset nephrotic syndrome, microscopic hematuria, sensorineural deafness, T-cell immunodeficiency and congenital heart disease. Genetic tests revealed that the boy carried a de novo hemizygous variant, c.704C>T (p.Pro235 Leu), in exon 3 of the GATA3 gene.

CONCLUSION

We report an infant with HDR syndrome who presented with early-onset nephrotic syndrome in China. We suggest that variants in the GATA3 gene might be associated with infant-onset nephrotic syndrome.

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Gazeu A, Collardeau-Frachon S. Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis. Pediatr Dev Pathol 2024;27:459-493. [PMID: 39270126 DOI: 10.1177/10935266241239241] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 09/15/2024]

Bukaeva A, Myasnikov R, Kulikova O, Meshkov A, Kiseleva A, Petukhova A, Zotova E, Sparber P, Ershova A, Sotnikova E, Kudryavtseva M, Zharikova A, Koretskiy S, Mershina E, Ramensky V, Zaicenoka M, Vyatkin Y, Muraveva A, Abisheva A, Nikityuk T, Sinitsyn V, Divashuk M, Dadali E, Pokrovskaya M, Drapkina O. A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities. Int J Mol Sci 2024;25:7556. [PMID: 39062799 PMCID: PMC11277405 DOI: 10.3390/ijms25147556] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/21/2024] [Revised: 07/03/2024] [Accepted: 07/05/2024] [Indexed: 07/28/2024] Open

Affiliation(s)

Anna Bukaeva National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Roman Myasnikov National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Olga Kulikova National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Alexey Meshkov National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.) National Medical Research Center of Cardiology, 121552 Moscow, Russia Research Centre for Medical Genetics, 115522 Moscow, Russia; (P.S.); (E.D.) Department of General and Medical Genetics, Pirogov Russian National Research Medical University, 117997 Moscow, Russia
Anna Kiseleva National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Anna Petukhova National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Evgenia Zotova National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Peter Sparber Research Centre for Medical Genetics, 115522 Moscow, Russia; (P.S.); (E.D.)
Alexandra Ershova National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Evgeniia Sotnikova National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Maria Kudryavtseva National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Anastasia Zharikova National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.) Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991 Moscow, Russia
Sergey Koretskiy National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Elena Mershina Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia; (E.M.); (V.S.)
Vasily Ramensky National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.) Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 119991 Moscow, Russia MSU Institute for Artificial Intelligence, Lomonosov Moscow State University, 119991 Moscow, Russia
Marija Zaicenoka Moscow Center for Advanced Studies, 123592 Moscow, Russia;
Yuri Vyatkin National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.) MSU Institute for Artificial Intelligence, Lomonosov Moscow State University, 119991 Moscow, Russia
Alisa Muraveva National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Alexandra Abisheva National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Tatiana Nikityuk National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Valentin Sinitsyn Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia; (E.M.); (V.S.)
Mikhail Divashuk National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.) All-Russia Research Institute of Agricultural Biotechnology, 127550 Moscow, Russia
Elena Dadali Research Centre for Medical Genetics, 115522 Moscow, Russia; (P.S.); (E.D.)
Maria Pokrovskaya National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)
Oxana Drapkina National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia; (R.M.); (O.K.); (A.M.); (A.K.); (A.P.); (E.Z.); (A.E.); (E.S.); (M.K.); (A.Z.); (S.K.); (V.R.); (Y.V.); (A.M.); (A.A.); (T.N.); (M.D.); (M.P.); (O.D.)

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Yao K, Iqbal MA, Moazzam NF, Qian W. A Comprehensive Study on Sudden Deafness for Analyzing Their Clinical Characteristics and Prognostic Factors. EAR, NOSE & THROAT JOURNAL 2024:1455613241232796. [PMID: 38462901 DOI: 10.1177/01455613241232796] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/12/2024] Open

Huang B, Li S, Chai Y, Fan Y, Li X, Liu Y, Fu Y, Song X, Cui J. A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome. Mol Genet Metab Rep 2024;38:101063. [PMID: 38469092 PMCID: PMC10926224 DOI: 10.1016/j.ymgmr.2024.101063] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/07/2023] [Revised: 01/24/2024] [Accepted: 01/26/2024] [Indexed: 03/13/2024] Open

Dinoi E, Pierotti L, Mazoni L, Citro F, Della Valentina S, Sardella C, Borsari S, Michelucci A, Caligo MA, Marcocci C, Cetani F. Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome. J Endocrinol Invest 2024;47:469-478. [PMID: 37561279 DOI: 10.1007/s40618-023-02171-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/09/2023] [Accepted: 07/28/2023] [Indexed: 08/11/2023]

Tao Y, Yang L, Han D, Zhao C, Song W, Wang H, Li X, Wang L. A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review. Front Genet 2023;14:1254556. [PMID: 37693317 PMCID: PMC10485837 DOI: 10.3389/fgene.2023.1254556] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/07/2023] [Accepted: 08/15/2023] [Indexed: 09/12/2023] Open

Gonçalves CI, Carriço JN, Omar OM, Abdalla E, Lemos MC. Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site. Front Endocrinol (Lausanne) 2023;14:1207425. [PMID: 37600721 PMCID: PMC10436458 DOI: 10.3389/fendo.2023.1207425] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/17/2023] [Accepted: 07/13/2023] [Indexed: 08/22/2023] Open

Gandolfi A, Ratnasamy K, Minutti C. Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia. JCEM CASE REPORTS 2023;1:luac025. [PMID: 37908274 PMCID: PMC10578366 DOI: 10.1210/jcemcr/luac025] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/22/2022] [Indexed: 11/02/2023]

Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, Xia W, Brandi ML. Hypoparathyroidism: Genetics and Diagnosis. J Bone Miner Res 2022;37:2615-2629. [PMID: 36375809 DOI: 10.1002/jbmr.4667] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/04/2022] [Revised: 07/22/2022] [Accepted: 07/31/2022] [Indexed: 01/05/2023]

Kagan M, Pleniceanu O, Vivante A. The genetic basis of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2022;37:2231-2243. [PMID: 35122119 DOI: 10.1007/s00467-021-05420-1] [Citation(s) in RCA: 28] [Impact Index Per Article: 9.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/03/2021] [Revised: 12/02/2021] [Accepted: 12/03/2021] [Indexed: 10/19/2022]

Newey PJ, Hannan FM, Wilson A, Thakker RV. Genetics of monogenic disorders of calcium and bone metabolism. Clin Endocrinol (Oxf) 2022;97:483-501. [PMID: 34935164 PMCID: PMC7614875 DOI: 10.1111/cen.14644] [Citation(s) in RCA: 7] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/31/2021] [Revised: 10/24/2021] [Accepted: 11/07/2021] [Indexed: 12/19/2022]

Živná M, Kidd KO, Barešová V, Hůlková H, Kmoch S, Bleyer AJ. Autosomal dominant tubulointerstitial kidney disease: A review. AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS 2022;190:309-324. [PMID: 36250282 PMCID: PMC9619361 DOI: 10.1002/ajmg.c.32008] [Citation(s) in RCA: 12] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 06/03/2022] [Revised: 09/10/2022] [Accepted: 09/29/2022] [Indexed: 01/11/2023]

Stevison LS, Bailey NP, Szpiech ZA, Novak TE, Melnick DJ, Evans BJ, Wall JD. Evolution of genes involved in the unusual genitals of the bear macaque, Macaca arctoides. Ecol Evol 2022;12:e8897. [PMID: 35646310 PMCID: PMC9130562 DOI: 10.1002/ece3.8897] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/01/2022] [Accepted: 04/05/2022] [Indexed: 11/30/2022] Open

Abstract

Genital divergence is thought to contribute to reproductive barriers by establishing a “lock‐and‐key" mechanism for reproductive compatibility. One such example, Macaca arctoides, the bear macaque, has compensatory changes in both male and female genital morphology as compared to close relatives. M. arctoides also has a complex evolutionary history, having extensive introgression between the fascicularis and sinica macaque species groups. Here, phylogenetic relationships were analyzed via whole‐genome sequences from five species, including M. arctoides, and two species each from the putative parental species groups. This analysis revealed ~3x more genomic regions supported placement in the sinica species group as compared to the fascicularis species group. Additionally, introgression analysis of the M. arctoides genome revealed it is a mosaic of recent polymorphisms shared with both species groups. To examine the evolution of their unique genital morphology further, the prevalence of candidate genes involved in genital morphology was compared against genome‐wide outliers in various population genetic metrics of diversity, divergence, introgression, and selection, while accounting for background variation in recombination rate. This analysis identified 67 outlier genes, including several genes that influence baculum morphology in mice, which were of interest since the bear macaque has the longest primate baculum. The mean of four of the seven population genetic metrics was statistically different in the candidate genes as compared to the rest of the genome, suggesting that genes involved in genital morphology have increased divergence and decreased diversity beyond expectations. These results highlight specific genes that may have played a role in shaping the unique genital morphology in the bear macaque.

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Bleyer AJ, Wolf MT, Kidd KO, Zivna M, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr Nephrol 2022;37:933-946. [PMID: 34021396 PMCID: PMC8722360 DOI: 10.1007/s00467-021-05118-4] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/26/2021] [Revised: 04/14/2021] [Accepted: 05/04/2021] [Indexed: 12/25/2022]

Kurosaka H, Mushiake J, Mithun S, Wu Y, Wang Q, Kikuchi M, Nakaya A, Yamamoto S, Inubushi T, Koga S, Sandell LL, Trainor P, Yamashiro T. Synergistic role of retinoic acid signaling and Gata3 during primitive choanae formation. Hum Mol Genet 2021;30:2383-2392. [PMID: 34272563 DOI: 10.1093/hmg/ddab205] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/02/2021] [Revised: 06/16/2021] [Accepted: 07/05/2021] [Indexed: 11/14/2022] Open

Shao QY, Wu PL, Lin BY, Chen SJ, Liu J, Chen SQ. Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature. Mol Cytogenet 2021;14:29. [PMID: 34049562 PMCID: PMC8164295 DOI: 10.1186/s13039-021-00546-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/14/2021] [Accepted: 04/08/2021] [Indexed: 11/23/2022] Open

Moriguchi T. Development and Carcinogenesis: Roles of GATA Factors in the Sympathoadrenal and Urogenital Systems. Biomedicines 2021;9:biomedicines9030299. [PMID: 33803938 PMCID: PMC8001475 DOI: 10.3390/biomedicines9030299] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/25/2021] [Accepted: 03/11/2021] [Indexed: 12/12/2022] Open

Ikeuchi M, Kiyota K, Itonaga T, Kawano-Matsuda F, Ohata Y, Fujiwara M, Kubota T, Ozono K, Ihara K. A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. CEN Case Rep 2020;10:241-243. [PMID: 33159669 DOI: 10.1007/s13730-020-00551-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/03/2020] [Accepted: 10/19/2020] [Indexed: 10/23/2022] Open

Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnþórsson ÁÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samara N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan M, Allon-Shalev S, King MC, Avraham KB. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clin Genet 2020;98:353-364. [PMID: 33111345 PMCID: PMC8045518 DOI: 10.1111/cge.13817] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2020] [Revised: 07/13/2020] [Accepted: 07/15/2020] [Indexed: 12/26/2022]

Affiliation(s)

Zippora Brownstein Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel
Suleyman Gulsuner Departments of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA
Tom Walsh Departments of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA
Fábio Tadeu Arrojo Martins Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel
Shahar Taiber Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel
Ofer Isakov Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Ming K. Lee Departments of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA
Mor Bordeynik-Cohen Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel
Maria Birkan Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Raphael Recanati Genetic Institute, Rabin Medical Center–Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel
Weise Chang Laboratory of Cochlear Development, National Institute on Deafness and Other Communications Disorders, NIH, Bethesda, MD, USA
Silvia Casadei Departments of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA
Nada Danial-Farran Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Genetics Institute, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion, Haifa, Israel
Amal Abu-Rayyan Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Department of Biological Sciences, Bethlehem University, Bethlehem, Palestine
Ryan Carlson Departments of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA
Lara Kamal Department of Biological Sciences, Bethlehem University, Bethlehem, Palestine
Ásgeir Örn Arnþórsson Department of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
Meirav Sokolov Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Department of Otolaryngology - Head and Neck Surgery, Schneider Children's Medical Center, Petach Tikva, Israel
Dror Gilony Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Department of Otolaryngology - Head and Neck Surgery, Schneider Children's Medical Center, Petach Tikva, Israel
Noga Lipschitz Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Department of Otolaryngology - Head and Neck Surgery, Sheba Medical Center, Tel Hashomer, Israel
Moshe Frydman Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel
Bella Davidov Raphael Recanati Genetic Institute, Rabin Medical Center–Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel
Michal Macarov Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Michal Sagi Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Chana Vinkler Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
Hana Poran Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel
Reuven Sharony Genetics Institute, Meir Medical Center, Kfar Saba and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Nadra Samara Ziv Medical Center, Zefat, Israel
Na’ama Zvi Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Hagit Baris-Feldman Genetics Institute, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel
Amihood Singer Community Genetics Department, Public Health Services, Ministry of Health, Ramat Gan, Israel
Ophir Handzel Department of Otolaryngology Head and Neck Surgery and Maxillofacial Surgery, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel
Ronna Hertzano Department of Otorhinolaryngology Head and Neck Surgery, University of Maryland School of Medicine, Baltimore, MD, USA
Doaa Ali-Naffaa Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Human Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel
Noa Ruhrman-Shahar Raphael Recanati Genetic Institute, Rabin Medical Center–Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel
Ory Madgar Department of Otolaryngology - Head and Neck Surgery, Sheba Medical Center, Tel Hashomer, Israel
Efrat Sofrin Raphael Recanati Genetic Institute, Rabin Medical Center–Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel
Amir Peleg Human Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel
Morad Khayat Genetics Institute, Ha'Emek Medical Center, Afula, Israel
Mordechai Shohat Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel Institute of Medical Genetics, Maccabi HMO, Rehovot, Israel
Lina Basel-Salmon Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Raphael Recanati Genetic Institute, Rabin Medical Center–Beilinson Hospital, Tel Aviv University Felsenstein Medical Research Center, Petach Tikva, Israel
Elon Pras Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel
Dorit Lev Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
Michael Wolf Department of Otolaryngology - Head and Neck Surgery, Sheba Medical Center, Tel Hashomer, Israel
Eirikur Steingrimsson Department of Biochemistry and Molecular Biology, BioMedical Center, Faculty of Medicine, University of Iceland, Reykjavik, Iceland
Noam Shomron Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Matthew W. Kelley Laboratory of Cochlear Development, National Institute on Deafness and Other Communications Disorders, NIH, Bethesda, MD, USA
Moien Kanaan Department of Biological Sciences, Bethlehem University, Bethlehem, Palestine
Stavit Allon-Shalev Genetics Institute, Ha'Emek Medical Center, Afula, Israel Rappaport Faculty of Medicine, Technion, Haifa, Israel
Mary-Claire King Departments of Genome Sciences and Medicine, University of Washington, Seattle, WA, USA
Karen B. Avraham Department of Human Molecular Genetics & Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel

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