Analysis of novel compound heterozygous variants of the GJA8 gene in a child with congenital cataract.
10.3760/cma.j.cn511374-20211218-01005
- Author:
Ruirui LI
1
;
Peiwen XU
;
Yang ZOU
;
Jie LI
;
Yuan GAO
Author Information
1. Center for Reproductive Medicine, Cheeloo College of Medicine, Key Laboratory of Reproductive Endocrinology of the Ministry of Education, Shandong Key Laboratory of Reproductive Medicine, Shandong Provincial Clinical Research Center for Reproductive Health, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong 250012, China. gaoyuan@sduivf.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Cataract/congenital*;
Family;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2022;39(11):1262-1265
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for child with congenital cataract.
METHODS:The child was subjected to next-generation sequencing. Candidate variant was verified by Sanger sequencing of his family members.
RESULTS:The proband was found to harbor novel heterozygous variants of c.855del and c.872dup of the GJA8 gene, which were inherited from his father and mother, respectively. Neither of these two variants has been reported. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the c.855del and c.872dup variants were classified as likely pathogenic (PVS1_S+PM2+PP4) and pathogenic (PVS1_S+PM2+PM3+PP4), respectively.
CONCLUSION:The c.855del and c.872dup variants of the GJA8 gene probably underlay the congenital cataract in this patient.
