Zhu Shuxia, Zhang Yuanyuan, Zhang Yuehua
Department of Pediatric Neurology, the Affiliated Hospital of Binzhou Medical College, Binzhou, Shandong 256603, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1556-1559. doi: 10.3760/cma.j.cn511374-20220425-00278.
To explore the genetic basis for a child featuring facial dysmorphism, single palmar crease, motor and language delay, and hypoplasia of corpus callosum.
A child who had visited the Affiliated Hospital of Binzhou Medical College on March 16, 2021 was selected as the study subject. Peripheral blood samples of the child and his parents were collected, and the genomic DNA was extracted for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
WES revealed that the child has harbored a heterozygous c.607delT (p.S203Pfs*31) variant in exon 9 of the TCF4 gene, for which both of his parents were of the wild-type. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PM2_Supporting+PM6).
The heterozygous c.607delT (p.S203Pfs*31) variant of the TCF4 gene probably underlay the Pitt-Hopkins syndrome in this child. Genetic testing has enabled the definite diagnosis.
探究一名患有面部畸形、单一掌褶、运动和语言发育迟缓以及胼胝体发育不全的儿童的遗传基础。
选取2021年3月16日就诊于滨州医学院附属医院的一名儿童作为研究对象。采集该儿童及其父母的外周血样本，提取基因组DNA进行全外显子组测序（WES）。通过桑格测序和生物信息学分析验证候选变异。
WES显示该儿童在TCF4基因第9外显子中存在杂合的c.607delT（p.S203Pfs*31）变异，其父母均为野生型。根据美国医学遗传学与基因组学学会的指南，该变异被分类为致病性变异（PVS1+PM2_Supporting+PM6）。
TCF4基因的杂合c.607delT（p.S203Pfs*31）变异可能是该儿童皮特-霍普金斯综合征的病因。基因检测实现了明确诊断。
