A novel pathogenic mutation of CRYGD gene in a congenital cataract family.
- Author:
Ming GAO
1
;
Sexin HUANG
;
Jie LI
;
Yang ZOU
;
Peiwen XU
;
Ranran KANG
;
Yuan GAO
Author Information
- Publication Type:Case Reports
- MeSH: Cataract; etiology; genetics; Child; Codon, Nonsense; Humans; Male; Sequence Analysis, DNA; gamma-Crystallins; genetics
- From: Chinese Journal of Medical Genetics 2016;33(4):515-518
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the disease-causing mutation in a pedigree affected with autosomal dominant congenital cataract.
METHODSGenomic DNA was extracted and purified from peripheral blood samples from members of the pedigree and 100 healthy controls. Coding regions of 18 candidate genes were screened with PCR and Sanger sequencing. Identified mutations were verified among 100 healthy individuals to exclude single nucleotide polymorphisms.
RESULTSA heterozygous nonsense mutation c.471G>A of the CRYGD gene, which resulted in p.Trp157Term, was identified in all three patients. The same mutation was not found in the two normal individuals from the family and 100 healthy controls. The nonsense mutation was predicted to be "disease causing" by Mutation t@sting program.
CONCLUSIONThe nonsense mutation c.471G>A of the CRYGD gene probably underlies the congenital cataract in the pedigree.
