病例报告:新型 FBXW7 基因变异会导致全面发育迟缓。

IF 2.8 3区 生物学 Q2 GENETICS & HEREDITY
Frontiers in Genetics Pub Date : 2024-09-19 eCollection Date: 2024-01-01 DOI:10.3389/fgene.2024.1436462
Yu Wang, Xiaoping Ma, Hua Li, Yanrui Dai, Xiaochen Wang, Li Liu
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引用次数: 0

摘要

目的研究一例由 FBXW7 基因突变引起的神经发育障碍病例。方法收集患者的临床资料,对患者及其父母(三人)进行全外显子组测序(trio-WES),并通过桑格测序验证结果。结果:患者是一名两岁零一个月大的男性,表现为面部畸形(前额突出、眼球肥大、鼻梁低)、全面发育迟缓、语言障碍、肌张力过高、唇血管瘤、鞘膜积液和过度生长。三重 WES 证实,该患儿的 FBXW7 基因变异为 c.1612C>T (p.G1n538*),这是一个迄今尚未报道过的基因位点。结论本例发育迟缓、肌张力低下和语言障碍(OMIM:#620012)与 FBXW7 基因突变有关,是近年来新发现的罕见遗传性疾病,很少有报道。该患儿存在肌张力亢进、唇血管瘤和鞘膜积液,这表明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谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case report: A novel FBXW7 gene variant causes global developmental delay.

Objective: To investigate a case of neurodevelopmental disorder caused by mutation of FBXW7. Methods: 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 de novo FBXW7 gene variant, c.1612C>T (p.G1n538*), a heretofore unreported locus. Conclusion: This case of developmental delay, hypotonia, and impaired language (OMIM: #620012) related to a mutation in FBXW7, 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.

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来源期刊
Frontiers in Genetics
Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
5.50
自引率
8.10%
发文量
3491
审稿时长
14 weeks
期刊介绍: Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.
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