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

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

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

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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

Abstract

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

CLC Number:

R730.264

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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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2022.07.011

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

Figures/Tables 4

	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)

	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)

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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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