[Polymicrogyria associated with ADGRG1 gene variations in a child]

X R Liu; T J Jiang; X H Yang; D W Wu; F Tong; F Gao

doi:10.3760/cma.j.cn112140-20240621-00420

[Polymicrogyria associated with ADGRG1 gene variations in a child]

Zhonghua Er Ke Za Zhi. 2024 Nov 2;62(11):1110-1112. doi: 10.3760/cma.j.cn112140-20240621-00420.

[Article in Chinese]

Authors

X R Liu¹, T J Jiang¹, X H Yang², D W Wu³, F Tong³, F Gao¹

Affiliations

¹ Department of Neurology, Children's Hospital, Epilepsy Center, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
² Department of Radiology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
³ Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.

PMID: 39429086
DOI: 10.3760/cma.j.cn112140-20240621-00420

Abstract

患儿为7月龄男童，以智力及运动发育迟缓、癫痫为主要表现，头颅磁共振成像可见弥漫性多小脑回畸形、脑白质异常信号、小脑及脑干发育不良，脑电背景活动可见不符合年龄的广泛性高幅节律性活动伴痫样放电、睡眠期可见极度纺锤。全外显子组测序检出ADGRG1基因母源性c.215del（p.P72Lfs*41）及父源性c.1906C>T（p.Q636*）复合杂合变异，既往未见报道，诊断为ADGRG1基因变异相关多小脑回畸形。.

Publication types

Case Reports

MeSH terms

Brain / pathology
Cerebellum / abnormalities
Electroencephalography*
Epilepsy / genetics
Exome Sequencing
Heterozygote
Humans
Infant
Intellectual Disability / genetics
Magnetic Resonance Imaging
Male
Mutation
Polymicrogyria* / genetics
Receptors, G-Protein-Coupled

Substances

ADGRG1 protein, human
Receptors, G-Protein-Coupled