The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q1, Q3)] of 22 (10, 32) months. All the patients presented with typical facial and overall developmental delay (developmental, motor and language delay). The 4 patients were found to harbor de novo heterozygous variants of the TCF4 gene, including the c.990G>A(p.S330S), c.1417_1418delinsT (p.Pro473ArgfsTer15), c.1028C>G (p.S343*) and c.500-2delinsTC. After 15 months of follow-up, all 4 patients received early rehabilitation treatment, and their gross motor function improved to varying degrees, while 3 patients had no improvement in language function. TCF4 gene variation in 4 children had phenotypic heterogeneity, and the main clinical manifestations were developmental delay, language development disorder and special facial features. Among the gene variation types, there was 1 case each of synonym variation, frameshift variation, nonsense variation and splicing variation.
回顾性纳入2022年9月至2024年1月在宁波大学附属妇女儿童医院就诊的Pitt-Hopkins综合征（PTHS）患儿的临床资料，随访至2024年6月，分析其临床及遗传学特点。共纳入4例患儿，男2例，女2例，诊断年龄［M（Q1，Q3）］为22（10，32）个月。4例患儿均表现为典型的特殊面容和整体的发育迟缓（发育、运动和语言发育迟缓）。4例患儿存在TCF4基因新发变异，基因变异位点分别为c.990G>A（p.S330S）、c.1417_1418delinsT（p.Pro473ArgfsTer15）、c.1028C>G（p.S343*）和c.500-2delinsTC。随访15个月，4例患儿均进行早期康复治疗，大运动功能均有不同程度的改善，其中3例患儿语言功能无改善。4例患儿TCF4基因变异具有表型异质性，主要临床表现为发育迟缓、语言发育障碍和特殊面容；基因变异类型中，同义变异、移码变异、无义变异和剪接变异各1例。.