Genetic analysis of microcephaly-cortical blind syndrome due to compound heterozygous variants of DIAPH1 gene.
10.3760/cma.j.cn511374-20210909-00737
- Author:
Xiaobing LI
1
;
Panjian LAI
;
Kaichao CHENG
;
Dayan WANG
Author Information
1. Third Ward of Pediatric Medicine, Jinhua Maternal and Child Health Care Hospital, Jinhua, Zhejiang 321000, China. airy005@163.com.
- Publication Type:Journal Article
- MeSH:
Blindness/genetics*;
Child;
Female;
Formins/genetics*;
Genetic Testing;
Humans;
Microcephaly/genetics*;
Mutation;
Pedigree;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(10):1116-1119
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a child with microcephaly-cortical blind syndrome.
METHODS:Clinical data of the child was collected. The child and her parents were subjected to whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.
RESULTS:WES revealed that the child has harbored compound heterozygous variants c.1051C>T and c.609delA of the DIAPH1 gene.
CONCLUSION:The compound heterozygous variation c.1051C>T (p.R351X) and c.609delA (p.E203Efs*19) of the DIAPH1 gene probably underlay the microcephaly-cortical blindness syndrome in this child.
