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

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....

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Bibliographic Details
Published in:Human genetics 1996-11, Vol.98 (5), p.567-571
Main Authors: MEYER, A, BECHETOILLE, A, VELTOT, F, DUPONT DE DINECHIN, S, ADAM, M. F, BELMOUDEN, A, BREZIN, A. P, GOMEZ, L, BACH, J.-F, GARCHON, H.-J
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
Biological and medical sciences
Canada
Child
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
France - ethnology
Genetic Linkage
Glaucoma and intraocular pressure
Glaucoma, Open-Angle - genetics
Haploidy
Humans
Lod Score
Male
Medical sciences
Middle Aged
Ophthalmology
Pedigree
Phenotype
Software
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050260