Connexin46 mutations in autosomal dominant congenital cataract.

  title={Connexin46 mutations in autosomal dominant congenital cataract.},
  author={D. Scott Mackay and Alexander C W Ionides and Zoha Kibar and Guy Rouleau and V. Berry and Anthony T Moore and Alan Shiels and Shomi Shanker Bhattacharya},
  journal={American journal of human genetics},
  volume={64 5},
Loci for autosomal dominant "zonular pulverulent" cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3). Here we report genetic refinement of the CZP3 locus and identify underlying mutations in the gene for gap-junction protein alpha-3 (GJA3), or connexin46 (Cx46). Linkage analysis gave a significantly positive two-point LOD score (Z) at marker D13S175 (maximum Z [Zmax]=>7.0; maximum recombination frequency [thetamax] =0). Haplotyping indicated that CZP3 probably lies in the genetic… CONTINUE READING