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

Patricia L. Kramer, Dante LaMorticella, Karla Schilling, Andrea M. Billingslea, Richard G. Weleber, Michael Litt

Research output: Contribution to journalArticle

24 Scopus citations

Abstract

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. RESULTS. 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.

Original languageEnglish (US)
Pages (from-to)36-39
Number of pages4
JournalInvestigative Ophthalmology and Visual Science
Volume41
Issue number1
StatePublished - Jan 19 2000

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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    Kramer, P. L., LaMorticella, D., Schilling, K., Billingslea, A. M., Weleber, R. G., & Litt, M. (2000). A new locus for autosomal dominant congenital cataracts maps to chromosome 3. Investigative Ophthalmology and Visual Science, 41(1), 36-39.