Pathogenic Genes and Protein Function Changes in a Congenital Hereditary Cataract Pedigree / 中国医科大学学报

ABSTRACT

Objective We screened for mutations in an autosomal dominant congenital cataract pedigree by gene sequence analysis to provide a basis for genetic diagnosis of congenital cataract.Methods A Chinese family with congenital nuclear cataract was recruited for mutational screening of candidate genes by direct sequencing.We analyzed the differences between the CRYGD gene mutant and wild-type in terms of protein conformation and structural domains using bioinformatics methods.Results We detected a novel heterozygous variant c.451_452insGACT in exon 3 of CR YGD.Bioinformatics analysis showed that the mutated CRYGD protein structural domain became shorter,the conformation became simpler,and protein inner repeatability was altered,affecting protein function.Conclusion We found that the Tyr1 51X gene mutation of CRYGD can lead to congenital hereditary cataract.To date,this is the only detected frameshift mutation caused by an insertion in CRYGD gene mutations.