Genetic analysis of a child with pachygyria due to variant of ADGRG1 gene
10.3760/cma.j.cn511374-20230829-00096
- VernacularTitle:ADGRG1基因变异导致巨脑回畸形1例患儿的遗传学分析
- Author:
Chuanlu SONG
1
;
Jingyu SU
Author Information
1. 钦州市妇幼保健院基因科学与遗传医学实验室，钦州 535099
- Keywords:
Malformations of cortical development, Group Ⅱ;
Pachygyria;
ADGRG1 gene;
Whole exome sequencing
- From:
Chinese Journal of Medical Genetics
2024;41(9):1105-1109
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a child with pachygyria.Methods:A proband who had visited Qinzhou Maternal and Child Health Care Hospital for pachygyria and mental retardation in June 2020 was selected as the study subject. Clinical data was collected. The child was subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing. This study was approved by the Qinzhou Maternal and Child Health Care Hospital (Ethics No. 20220710).Results:The proband, a 4-year-old and 6-month-old female, was clinically diagnosed with megagyrus deformity. WES revealed that she has harbored compound heterozygous variants of the ADGRG1 gene, namely c. 781G>T (p.E261*) in exon 6 and c. 1369A>C (p.S457R) in exon 11, which were verified by Sanger sequencing to be derived from her mother and father, respectively. Her younger sister was also heterozygous for the c. 1369A>C (p.S457R) variant. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PVS1+ PM2_ Supporting; PM1+ PM2_Supporting+ PM3+ PP3). Conclusion:The c. 781G>T (p.E261*) and c. 1369A>C (p.S457R) compound heterozygous variants of the ADGRG1 gene probably underlay the pachygyria malformation in this child.
