Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts.
10.3760/cma.j.issn.1003-9406.2019.07.010
- VernacularTitle:一个先天性白内障家系的CRYGC基因新突变
- Author:
Jing ZHANG
1
;
Donglan SUN
;
Yacong WANG
;
Weihong MU
;
Yuanyuan PENG
;
Dongqing MI
Author Information
1. Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei 050011, China. zjhbmu@163.com.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
Cataract;
congenital;
genetics;
China;
Heterozygote;
Humans;
Mutation;
Pedigree;
gamma-Crystallins;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(7):697-700
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with congenital cataracts.
METHODS:Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants. Candidate variants were verified by familial co-segregation analysis and Sanger sequencing. Bioinformatics analysis was carried out to predict the function of mutant genes.
RESULTS:By comparing variants identified among affected and unaffected individuals, a heterozygous variant, c.110 G>C (p.R37P), was identified in exon 2 of the CRYGC gene among all patients, which also matched the criteria for potential disease-causing mutations. The result was confirmed by Sanger sequencing.
CONCLUSION:The c.110G>C variant of the CRYGC gene probably underlay the congenital cataracts in this pedigree.
