一个先天性白内障家系的CRYGC基因新突变

Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts

目的对一个先天性白内障家系进行致病基因的分析。方法收集在石家庄市妇产医院就诊的一例先天性白内障患者及其家系成员的临床资料,对该家系先证者及其双亲行全基因组外显子测序,寻找致病基因,用Sanger测序对家系其他成员进行验证,并应用生物信息学软件对突变引起的基因功能改变进行预测。结果家系患者与正常人测序结果比对分析及多个生物数据库数据过滤,发现CRYGC基因第2外显子上存在的杂合突变c.110G>C(p.R37P)为该家系的可能致病基因突变。生物信息学预测该突变有害。结论CRYGC基因c.110G>C变异可能是该先天性白内障家系的致病突变。

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.