Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12

Am J Hum Genet. 1995 Oct;57(4):840-5.


Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Different loci for hereditary congenital cataracts have been mapped to chromosomes 1, 2, 16, and 17q24. We report linkage of a gene causing a unique form of autosomal dominant zonular cataracts with Y-sutural opacities to chromosome 17q11-12 in a three-generation family exhibiting a maximum lod score of 3.9 at D17S805. Multipoint analysis gave a 1-lod confidence interval of 17 cM. This interval is bounded by the markers D17S799 and D17S798, a region that would encompass a number of candidate genes including that coding for beta A3/A1-crystallin.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cataract / congenital
  • Cataract / genetics*
  • Chromosomes, Human, Pair 17*
  • Genetic Linkage
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Pedigree