Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts / 中华医学遗传学杂志

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.