Wang Yu, Ma Xiaoping, Li Hua, Dai Yanrui, Wang Xiaochen, Liu Li
College of Clinical Medicine, Ningxia Medical University, Yinchuan, China.
Department of Pediatric Rehabilitation, The First People's Hospital of Yinchuan, Yinchuan, China.
Front Genet. 2024 Sep 19;15:1436462. doi: 10.3389/fgene.2024.1436462. eCollection 2024.
To investigate a case of neurodevelopmental disorder caused by mutation of . Clinical data were collected from the patient, trio-WES (whole-exome sequencing) was performed on the patient and his parents (trio), and the results were verified by Sanger sequencing. RESULTS: The patient was a 2-year and 1-month old male who presented with facial dysmorphism (prominent forehead, ocular hypertelorism, and low nasal bridge), global developmental delay, language impairment, hypertonia, labial hemangioma, hydrocele, and overgrowth. The trio-WES confirmed that the child had a pathogenic gene variant, c.1612C>T (p.G1n538*), a heretofore unreported locus. This case of developmental delay, hypotonia, and impaired language (OMIM: #620012) related to a mutation in , is a rare genetic disorder, newly identified in recent years, and seldom reported. The presence of hypertonia, labial hemangioma, and hydrocele in this child suggests significant phenotypic heterogeneity of the disease, and the discovery of new mutant loci enriches the spectrum of pathogenic variants of the disease.
为调查一例由……突变引起的神经发育障碍病例。收集了该患者的临床资料，对患者及其父母进行了三联全外显子测序（trio-WES），并通过桑格测序对结果进行了验证。结果：该患者为一名2岁1个月大的男性，表现为面部畸形（前额突出、眼距增宽、鼻梁低平）、全面发育迟缓、语言障碍、肌张力亢进、唇部血管瘤、鞘膜积液和生长过速。三联全外显子测序证实该患儿有一个致病基因变异，c.1612C>T（p.Gln538*），这是一个此前未报道的位点。这例与……突变相关的发育迟缓、肌张力减退和语言障碍（OMIM：#620012）病例是一种近年来新发现的罕见遗传病，鲜有报道。该患儿存在肌张力亢进、唇部血管瘤和鞘膜积液，提示该病具有显著的表型异质性，新突变位点的发现丰富了该病的致病变异体谱。
