Clinical characteristics and genetic analysis of a child with Char syndrome caused by TFAP2B gene variant
10.3760/cma.j.cn511374-20230619-00371
- VernacularTitle:TFAP2B基因变异所致Char综合征1例患儿的临床特征及遗传学分析
- Author:
Bo HU
1
;
Zongyuan LIU
;
Xiaoman ZHANG
;
Debin YANG
;
Yuanzhe LI
;
Haibei LI
;
Shuanfeng FANG
Author Information
1. 郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院儿童保健科，郑州 450000
- Keywords:
Char syndrome;
TFAP2B gene;
Facial dysmorphism;
Patent ductus arteriosus
- From:
Chinese Journal of Medical Genetics
2024;41(8):936-940
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical features and genetic etiology of a child with Char syndrome.Methods:A child who was presented at the Department of Child Health, Henan Children′s Hospital in February 2022 was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis.Results:The child had mainly manifested facial dysmorphism, patent ductus arteriosus, growth retardation, curving of fifth fingers and middle toes. Whole exome sequencing revealed that she has harbored a heterozygous c. 944A>C (p.Glu315Ala) variant of the TFAP2B gene, which was verified to be de novo by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated to be likely pathogenic (PM1+ PM2_Supporting+ PM6+ PP3). Conclusion:The heterozygous c. 944A>C (p.Glu315Ala) variant of the TFAP2B gene probably underlay the Char syndrome in this child. Above finding has expanded the mutational and phenotypic spectra of the TFAP2B gene, which has facilitated early identification and diagnosis of Char syndrome.
