先天性中枢神经系统复合畸形1例临床及遗传学分析:一个包含VANGL1基因突变的识别

Clinical and genetic analysis of a neonate with congenital central nervous system multiple malformation:An identification on mutations in VANGL1 genes

目的探讨1例先天性中枢神经系统复合畸形的临床和遗传学特征。方法收集患儿临床资料,采用下一代基因测序技术捕获外显子组致病突变,并进行Sanger测序验证。结果基因测序回报VANGL1基因错义突变c.542G>A(p.R181Q),患儿术后不规律随访至2周岁,暂时未见神经、运动、营养等生长发育异常表现。结论本案例拓展了国内VANGL1基因错义突变的致病谱,为此类患儿的产检、治疗及随访提供一定的临床及实验室依据。

Objective To explore the clinical and genetic characteristics of a neonate with central nervous system malformation.Methods The clinical data of the neonate were collected,and the next generation gene sequencing technology was applied to capture pathogenic mutations in the exome,and Sanger sequencing was applied for validation.Results Next generation sequancing detected VANGL1 gene missense mutation satisfied c.542G>A(p.R181Q),the neonate was followed up irregularly to 2 years old,and no abnormal growth and development for nerve,motor and nutrition were found.Conclusion The case makes for the pathogenicity of missense mutation of VANGL1 genes in China expanded,and provides some clinical and laboratory basis for gynecological examination,treatment and follow-up of the gynecological.