Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene
10.3760/cma.j.cn511374-20230607-00348
- VernacularTitle:CHD7基因变异所致CHARGE综合征1例患儿的临床表型及遗传学分析
- Author:
Chunxiao HAN
1
;
Lulu YAN
;
Yuxin ZHANG
;
Haibo LI
Author Information
1. 宁波市妇女儿童医院出生缺陷综合防治中心，宁波 315000
- Keywords:
CHARGE syndrome;
CHD7 gene;
Whole exome sequencing
- From:
Chinese Journal of Medical Genetics
2024;41(8):962-965
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for child with CHARGE syndrome.Methods:A child who was diagnosed at Ningbo Women and Children′s Hospital on September 29, 2022 was selected as the study subject. Relevant clinical data were collected. The child and her parents were subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results:The child was found to harbor a de novo c. 2972T>C (p.L991S) missense variant of the CHD7 gene, which was detected in neither of her parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PM6+ PM2_Supporting+ PP2+ PP3+ PP4). Bioinformatic analysis predicted that amino acid 991 is highly conserved among various species, and a hydrogen bond has formed between Asp993 and the mutant Ser991. Conclusion:The heterozygous c. 2972T>C (p.L991S) missense variant of the CHD7 gene probably underlay the pathogenesis of CHARGE syndrome in this child. Above finding has also enriched the mutational spectrum for CHARGE syndrome.
