【摘要】 目的:鉴定一个先天性白内障家系的致病基因及位点。方法:对该先天性白内障家系的先证者进行高频突变外显子直接测序,通过生物信息学分析鉴定的致病基因及位点,利用ACMG标准对突变致病性进行分级。结果:在先证者的GJA8基因上存在1个杂合变异位点,c.569A>G (p.N190S)。该位点在家系中符合遗传共分离规律。结论:GJA8基因上的c.569A>G位点是引起该先天性白内障家系临床病变的可能致病位点。该突变位点是引起先天性白内障发生的致病位点为首次报道。更多还原

【Abstract】 Objective: To investigate the disease-causing mutation in a Chinese family with congenital cataract. Methods: Direct sequencing on hotspot exons was applied to examine the DNA sample of the proband from a Chinese family with congenital cataract. Disease-causing mutation was identified by bioinformatics analysis and followed by ACMG classification. Results: A compound heterozygous mutation, c.569 A>G(p.N190 S) locus on GJA8 of the proband were found, which conformed to the law of genetic cosegregation in the family. Conclusion: c.569 A>G(p.N190 S) locus on in GJA8 maybe cause congenital cataract of patients in a Chinese family, and it is the first reported.更多还原