A novel mutation in the connexin 46 gene (GJA3) causesautosomal dominant zonular pulverulent cataract in a Hispanic family

[摘要] Purpose: A five-generation Hispanic pedigree with autosomal dominantzonular pulverulent cataract was studied to identify the causativemutation in connexin 46 (Cx46), a gap junction protein responsible formaintaining lens homeostasis.Methods: Twenty-six individuals from the family were comprehensivelyclinically examined. DNA was extracted from their peripheral bloodsamples. The DNA was used for automated genotyping with fluorescentlylabeled microsatellite markers and for mutation detection by automatedsequencing.Results: A novel D3Y missense mutation in GJA3 segregated withautosomal dominant (AD) zonular pulverulent cataract throughout thefamily. The mutation was absent in the unaffected individuals in thefamily and in 230 control chromosomes.Conclusions: A novel mutation causing AD zonular pulverulentcataract has been identified in a Hispanic Central American family. Thisis the first report of a mutation in GJA3 causing autosomal dominantcongenital cataract (ADCC) in this ethnic group. It is also the firstreported cataract-causing mutation in the NH2-terminal region ofthe Cx46 protein.

[学科分类] 生物化学/生物物理