Li Y, Zhou Z, Xu Y, Wang ZR. Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report. World J Clin Cases 2023; 11(16): 3891-3898 [PMID: 37383123 DOI: 10.12998/wjcc.v11.i16.3891]
Corresponding Author of This Article
Zheng Zhou, Doctor, Chief Physician, Department of Pediatrics, The First Affiliated Hospital, Henan University of Chinese Medicine, No. 19 Renmin Road, Jinshui District, Zhengzhou 450000, Henan Province, China. Czj6799@126.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/
World J Clin Cases. Jun 6, 2023; 11(16): 3891-3898 Published online Jun 6, 2023. doi: 10.12998/wjcc.v11.i16.3891
Novel mutation c.2090_2091del in neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities in an 18.5-mo-old boy: A case report
Yi Li, Zheng Zhou, Yan Xu, Zhi-Ru Wang
Yi Li, College of Pediatrics, Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China
Zheng Zhou, Yan Xu, Zhi-Ru Wang, Department of Pediatrics, The First Affiliated Hospital, Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China
Author contributions: Li Y acquisition of clinical data, interpretation of data and writing-review and editing, analysis of the bioinformatics data; Zhou Z design of the work, acquisition of clinical data; Xu Y and Wang ZR evaluation and care of the patient; and all authors wrote this manuscript.
Supported bythe National Natural Science Foundation of China, No. 82205190; and the Foundation for Distinguished Young Talents in Higher Education of Henan, No. [2018]16.
Informed consent statement: The patient’s family provided informed written consent prior to study enrollment for publication of this case report.
Conflict-of-interest statement: All authors report no relevant conflicts of interest for this article.
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: Zheng Zhou, Doctor, Chief Physician, Department of Pediatrics, The First Affiliated Hospital, Henan University of Chinese Medicine, No. 19 Renmin Road, Jinshui District, Zhengzhou 450000, Henan Province, China. Czj6799@126.com
Received: March 14, 2023 Peer-review started: March 14, 2023 First decision: March 28, 2023 Revised: April 6, 2023 Accepted: April 14, 2023 Article in press: April 14, 2023 Published online: June 6, 2023 Processing time: 79 Days and 19.2 Hours
Abstract
BACKGROUND
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC) is a rare, autosomal, dominant neurological disorder caused by mutations in the ZMYM2 gene. To date, the clinical and functional characteristics of the novel ZMYM2 mutation c.2090_2091del have not yet been reported.
CASE SUMMARY
The patient was an 18.5-mo-old Chinese boy with motor and language delay, microcephaly, facial dysmorphism, moderate malnutrition, single palmar crease on the left hand, synpolydactyly of the right foot, hypotonia and feeding problems. The boy who was diagnosed with NECRC was enrolled in the First Affiliated Hospital, Henan University of Chinese Medicine, and his clinical data were collected. From the whole-exon sequencing (WES) data, the pathogenic SNVs/InDels were identified, and the molecular findings were characterized. WES revealed that the heterozygous variant in the ZMYM2 gene was c.2090_2091del, p.Ser697TrpfsTer3, a frameshift mutation, which is a NECRC-related gene mutation.
CONCLUSION
We performed a systematic literature review to identify and characterize NECRC. Substantial evidence from the literature indicated that patients with ZMYM2 gene mutation showed different degrees of intellectual disability, motor and language retardation, facial dysmorphism, and a few had congenital heart defects, kidney and urinary tract abnormalities. Early diagnosis and prompt management with comprehensive rehabilitation training are beneficial, but may not improve long-term outcomes.
Core Tip: We describe a patient with neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities caused by ZMYM2 mutation. Bioinformatics analysis suggested the presence of a novel complex heterozygous variant in the ZMYM2 gene.
