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

doi:10.3969/j.issn.1004-583X.2022.07.011

临床荟萃 ›› 2022, Vol. 37 ›› Issue (7): 640-643.doi: 10.3969/j.issn.1004-583X.2022.07.011

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

彭宇^a, 江志红^b, 王志海^b()

a.湛江中心人民医院新生儿科,广东湛江 524045
b.湛江中心人民医院新康复科,广东湛江 524045

收稿日期:2021-05-20 出版日期:2022-07-20 发布日期:2022-08-30
通讯作者: 王志海 E-mail:gdwzh2000@aliyun.com

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

Peng Yu^a, Jiang Zhihong^b, Wang Zhihai^b()

a. Department of Neonatology,Central People's Hospital of Zhanjiang,Zhanjiang 524045,China
b. Department of Rehabilitation,Central People's Hospital of Zhanjiang,Zhanjiang 524045,China

Received:2021-05-20 Online:2022-07-20 Published:2022-08-30
Contact: Wang Zhihai E-mail:gdwzh2000@aliyun.com

摘要/Abstract

摘要：

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 $V A N G L 1$ 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 $V A N G L 1$ 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。

关键词: 神经系统畸形, VANGL1基因, 脑膜膨出, 新生儿

Abstract:

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 $V A N G L 1$ 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 $V A N G L 1$ genes in China expanded, and provides some clinical and laboratory basis for gynecological examination, treatment and follow-up of the gynecological.

Key words: nervous system malformations, $V A N G L 1$ gene, meningocele, neonate

中图分类号:

R730.264

彭宇, 江志红, 王志海. 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[J]. 临床荟萃, 2022, 37(7): 640-643.

Peng Yu, Jiang Zhihong, Wang Zhihai. Clinical and genetic analysis of a neonate with congenital central nervous system multiple malformation: An identification on mutations in VANGL1 genes[J]. Clinical Focus, 2022, 37(7): 640-643.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2022.07.011

https://huicui.hebmu.edu.cn/CN/Y2022/V37/I7/640

图/表 4

图1 脑膜膨出图2 脑膜膨出透光试验阳性图3 脑室增宽及脑灰质异位图4 双侧小脑半球、胼胝体发育不良

图5 患儿家系 V A N G L 1基因外显子分析结果

表1 10种 NDTs患者 V A N G L 1基因上检出的错义突变类型

	c.73G>A p.Glu25Lys	c.248C>T p.Ser83Leu	c.458T>C p.Phe153Ser	c.542G>A p.Arg175Glu	c.542G>A p.Arg181Gln	c.604C>T p.Leu202Phe	c.752C>T p.Thr251Met	c.868T>C p.Tyr290His	c.1210G>T p.Ala404Ser	c.1401T>G p.Asp468Glu
NTDs( $n$ =673)	1	3	1	1	1	1	2	1	1	1
Controls( $n$ =0)	0(1 346)	0(1 187)	0(1 462)	0(1 255)	0(1 345)	0(1 347)	0(1 348)	0(1 355)	0(1 254)	0(1 255)

表1 10种 NDTs患者 V A N G L 1基因上检出的错义突变类型

	c.73G>A p.Glu25Lys	c.248C>T p.Ser83Leu	c.458T>C p.Phe153Ser	c.542G>A p.Arg175Glu	c.542G>A p.Arg181Gln	c.604C>T p.Leu202Phe	c.752C>T p.Thr251Met	c.868T>C p.Tyr290His	c.1210G>T p.Ala404Ser	c.1401T>G p.Asp468Glu
NTDs( $n$ =673)	1	3	1	1	1	1	2	1	1	1
Controls( $n$ =0)	0(1 346)	0(1 187)	0(1 462)	0(1 255)	0(1 345)	0(1 347)	0(1 348)	0(1 355)	0(1 254)	0(1 255)

图6 8月龄能独坐图7 8月龄脑积水加重图8 8月龄侧脑室灰质异位

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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

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