Lin SZ, Feng JH, Sun LP, Ma HW, Wang WQ, Li JY. Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report. World J Clin Cases 2022; 10(6): 1889-1895 [PMID: 35317131 DOI: 10.12998/wjcc.v10.i6.1889]
Corresponding Author of This Article
Shuang-Zhu Lin, MD, Doctor, Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130021, Jilin Province, China. 61858@163.com
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Shuang-Zhu Lin, Jin-Hua Feng, Li-Ping Sun, Diagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Hong-Wei Ma, Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Wan-Qi Wang, Jia-Yi Li, Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Author contributions: Lin SZ and Feng JH collected and analyzed all clinical data and wrote the manuscript; Sun LP participated in collation of the literature and the chart research; Ma HW was involved in the genetic diagnosis and treatment of the patients; Lin SZ, JF, Wang WQ, and Li JY substantially participated in drafting and revising the manuscript for important intellectual content; all authors involved have read and approved the final manuscript.
Supported byNatural Science Foundation of Jilin Province, No. 20200201486JC.
Informed consent statement: Informed consent has been obtained from the patient and her family for all information mentioned in this report.
Conflict-of-interest statement: All the authors of this article have stated that there is no conflict of interest and have signed the relevant documents.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Shuang-Zhu Lin, MD, Doctor, Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130021, Jilin Province, China. 61858@163.com
Received: July 15, 2021 Peer-review started: July 15, 2021 First decision: November 11, 2021 Revised: November 16, 2021 Accepted: January 11, 2022 Article in press: January 11, 2022 Published online: February 26, 2022
Abstract
BACKGROUND
This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome, and contributes to the current knowledge on the condition.
CASE SUMMARY
We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of puberty, typical facial features of Cornelia de Lange syndrome, and normal intelligence. Peripheral blood DNA samples obtained from the patient and his parents were sequenced using high-throughput whole-exosome sequencing, which was verified by Sanger sequencing. The results showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6 (TAF6) gene. The mutation of c.1052delT was from his mother and the mutation of c.76A>T was from his father.
CONCLUSION
This study extends the mutation spectrum of the TAF6 gene, and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.
Core Tip: We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of puberty, typical facial features of Cornelia de Lange syndrome, and normal intelligence. DNA sequencing test showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6 (TAF6) gene. This study extends the mutation spectrum of the TAF6 gene, and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.
