先天性白内障一患病家系的突变基因筛查

Screening of mutation genes in a family with congenital cataract

目的对先天性蓝点状白内障一患病家系进行致病基因突变筛查,以探索其潜在遗传学缺陷。方法2017年9月收集黑龙江省一个先天性蓝点状白内障家系,对该家系及正常对照者进行详细的病史采集及临床相关检查后,应用聚合酶链式反应(PCR)测序法对其进行白内障热点候选基因的突变检测。结果在该家系患者的GJA8基因发现了c.10T>C的杂合错义突变,导致第4位高度保守的色氨酸改变为精氨酸(p.W4R),而家系内正常成员及正常对照者中均未发现该突变。结论GJA8基因c.10T>C点突变是该患病家系的潜在遗传学病因,拓展了先天性白内障GJA8基因突变谱。

Objective To screen mutation in pathogenic genes in a family with congenital blue dot cataract,so as to explore their potential genetic defects.Methods A congenital blue dot cataract family in Heilongjiang province was collected in September 2017.After detailed medical history collection and clinical examination of this family and normal controls,polymerase chain reaction(PCR)sequencing was used to detect the mutation of candidate genes in cataract hot spots.Results The heterozygous missense mutation of c.10T>C was found in the GJA8 gene of this family,which resulted in the change of the highly conserved tryptophan in the fourth position to arginine(p.W4R),but the mutation was not found in the normal members of the family or the normal controls.Conclusion The GJA8 gene c.10T>C mutation is the potential genetic etiology of this family,which extends the GJA8 gene mutation spectrum of congenital cataract.