A new locus for autosomal dominant congenital cataracts maps to chromosome 3

Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9.


Purpose: To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region.

Methods: A large family with autosomal dominant congenital nuclear and sutural cataracts was identified and characterized. A genome-wide screen was conducted with a set of markers spaced at 10- to 15-cM intervals, and linkage was assessed using standard LOD score analysis.

Result: Fifteen (15) affected individuals were identified. This form of congenital cataracts maps to a 12-cM region on chromosome 3q21.2-q22.3 between markers D3S3674 and D3S3612, with a maximum multipoint LOD score of 6.94 at D3S1273. The crystallin gene, CRYGS, was excluded as a candidate gene for this locus.

Conclusions: There are now more than 12 different genetic loci that cause congenital cataracts. The most recent locus to be identified is on chromosome 3q21.2-q22.3, in a family with congenital nuclear and sutural cataracts.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Cataract / congenital*
  • Cataract / genetics*
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 3 / genetics*
  • Crystallins / genetics
  • DNA / analysis
  • DNA Primers / chemistry
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree


  • Crystallins
  • DNA Primers
  • DNA

Associated data

  • GENBANK/L36869