Hu Bo, Liu Zongyuan, Zhang Xiaoman, Yang Debin, Li Yuanzhe, Li Haibei, Fang Shuanfeng
Department of Child Health Care, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Aug 10;41(8):936-940. doi: 10.3760/cma.j.cn511374-20230619-00371.
To explore the clinical features and genetic etiology of a child with Char syndrome.
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.
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).
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.
探讨1例患有查尔综合征患儿的临床特征及遗传病因。
选取2022年2月就诊于河南省儿童医院儿童保健科的1名患儿作为研究对象。收集该患儿的临床资料，并采集患儿及其父母的外周血样本用于提取基因组DNA。进行全外显子组测序，并通过桑格测序和生物信息学分析对候选变异进行验证。
该患儿主要表现为面部畸形、动脉导管未闭、生长发育迟缓、第五指和中趾弯曲。全外显子组测序显示，她携带TFAP2B基因的杂合c.944A>C（p.Glu315Ala）变异，经桑格测序验证为新发变异。根据美国医学遗传学与基因组学学会（ACMG）的指南，该变异被评定为可能致病（PM1+PM2支持+PM6+PP3）。
TFAP2B基因的杂合c.944A>C（p.Glu315Ala）变异可能是该患儿患查尔综合征的病因。上述发现扩展了TFAP2B基因的突变和表型谱，有助于查尔综合征的早期识别和诊断。
