Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family

Hum Genet. 1996 Nov;98(5):567-71. doi: 10.1007/s004390050260.


The GLC1A locus for autosomal dominant primary open-angle glaucoma (POAG) with juvenile onset (before 20 years) has been mapped to chromosome 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed and linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted the distal boundary of the GLC1A interval proximal to the AFM154xc9 marker. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Canada
  • Child
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 1*
  • Female
  • France / ethnology
  • Genetic Linkage
  • Glaucoma, Open-Angle / genetics*
  • Haploidy
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Software