title: Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.
abstract: 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.
authors.affiliation: INSERM U25, Hôpital Necker, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Meyer
authors.forename: A
authors.initials: A
authors.lastname: Béchetoille
authors.forename: F
authors.initials: F
authors.lastname: Valtot
authors.forename: S
authors.initials: S
authors.lastname: Dupont de Dinechin
authors.forename: M F
authors.initials: MF
authors.lastname: Adam
authors.forename: A
authors.initials: A
authors.lastname: Belmouden
authors.forename: A P
authors.initials: AP
authors.lastname: Brézin
authors.forename: L
authors.initials: L
authors.lastname: Gomez
authors.forename: J F
authors.initials: JF
authors.lastname: Bach
authors.forename: H J
authors.initials: HJ
authors.lastname: Garchon
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002170:Canada; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D005602:France / Q000208:ethnology; D008040:Genetic Linkage; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006238:Haploidy; D006801:Humans; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012984:Software