Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family |
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Authors: | Anne Meyer Alain Béchetoille Françoise Valtot Stéphane Dupont de Dinechin Marie F Adam Ahmed Belmouden Antoine P Brézin Lucienne Gomez Jean-François Bach H-J Garchon |
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Institution: | INSERM U25, H?pital Necker, 161, rue de Sèvres, and Institut Necker, F-75743 Paris cedex 15, France Fax: +33-1-43-06-23-88; e-mail garchon@necker.fr, FR Service d’ophthalmologie, C.H.U. Angers, Angers, France, FR
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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.
Received: 6 May 1996 / Revised: 21 June 1996 |
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