一名患有发育迟缓、神经发育迟缓及肌张力减退的中国患者中的一种新型变异（c.4354G>A；p.Gly1452Ser）
A Novel Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
作者信息
Zeng Lan, Nie Jing, Zhu Shuyao, Wang Jin, Deng Yi, Zhu Hui, Wang Xueyan, Xi Na
机构信息
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Woman's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
Department of Children's Health Care, Sichuan Provincial Woman's and Children's Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China.
出版信息
Mol Syndromol. 2025 Apr 17:1-8. doi: 10.1159/000545680.
INTRODUCTION
Neurodevelopmental disorders (NDDs) due to the (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in gene in patients with NDDs with hypotonia, seizures, and absent language.
CASE PRESENTATION
In this study, the clinical and genetic features of a Chinese girl with neurodevelopmental delay, developmental language disorder, and hypotonia are described. Trio whole exome sequencing revealed a novel likely pathogenic variant in (exon26: c.4354G>A; p. Gly1452Ser) in the patient, while the variant was absent in her parents with Sanger sequencing.
CONCLUSION
Our objective was to identify the potential site of , combined with the literature review, to find the correlation between clinical phenotype and genotype.
引言
由（MIM:617245）致病变异导致的神经发育障碍（NDDs）极为罕见。通过在患有肌张力减退、癫痫和语言缺失的NDDs患者中鉴定出该基因的新生变异，已确定了与HECW2相关的疾病。
病例报告
本研究描述了一名患有神经发育迟缓、发育性语言障碍和肌张力减退的中国女孩的临床和遗传特征。三联体全外显子组测序在患者中发现了一个新的可能致病变异（外显子26：c.4354G>A；p.Gly1452Ser），而其父母通过桑格测序未发现该变异。
结论
我们的目标是鉴定潜在的致病位点，结合文献综述，找到临床表型与基因型之间的相关性。
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