Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

Hum Genet. 1995 Jul;96(1):33-8. doi: 10.1007/BF00214183.


Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Danish pedigree comprising 426 members, by using highly informative short tandem repeat polymorphisms and found the closest linkage of the disease gene (CCV) to a (CA)n dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at theta M = 0.025 theta F = 0.000), at a penetrance of 0.90. Using two additional chromosome 1 markers, we were able to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S214. The (enolase 1) gene has been mapped to this area; however, a mutation described in this gene did not give eye disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract / congenital*
  • Cataract / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Female
  • Genetic Linkage*
  • Genotype
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Telomere