Genetic analysis of a child with developmental disorder and epilepsy due to a homozygous variant of PIGW gene.
10.3760/cma.j.cn511374-20221010-00678
- VernacularTitle:PIGW基因纯合变异致发育障碍合并癫痫发作患儿1例的遗传学分析
- Author:
Jiequn ZENG
1
;
Yang TIAN
;
Lianfeng CHEN
;
Jiahao CAI
;
Xiuying WANG
;
Yingting LIAO
;
Huiling SHEN
;
Xiaojing LI
Author Information
1. Operation Room, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, China. lixiaojingfy@163.com.
- Publication Type:Journal Article
- MeSH:
Child, Preschool;
Female;
Humans;
Computational Biology;
Developmental Disabilities;
Epilepsy/genetics*;
Genetic Testing;
Homozygote
- From:
Chinese Journal of Medical Genetics
2023;40(10):1288-1291
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child featuring global developmental disorder with epilepsy.
METHODS:A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.
RESULTS:The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance.
CONCLUSION:The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.
