PMID: 9556305Apr 29, 1998Paper

Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France

American Journal of Medical Genetics
A P BrézinH-J Garchon

Abstract

Open-angle glaucoma (POAG) is a highly prevalent cause of visual impairment. Six families grouping 71 living patients affected with juvenile-onset and middle-age POAG (age at diagnosis ranging from 10 to 65 years) were linked to the GLC1A locus. All patients carried a mutation of an evolutionarily conserved asparagine residue to a lysine at position 480 (N480K) in the olfactomedin-homology domain, which is encoded by the third exon of the GLC1A gene. The N480K mutation was also identified in 14 unaffected carriers who are at high risk of developing POAG. Although four of the families had ancestors identified in Northern France, the pedigrees could not be interconnected by genealogical investigation. However, haplotype analysis indicated that all the carriers had inherited the N480K mutation from the same founder. Screening of a selected set of 67 POAG patients who originated from Northern France and underwent trabeculectomy before the age of 50, detected one patient with the N480K mutation associated with the same disease haplotype already characterized in the 6 families. This group of 72 POAG patients is the largest one having a GLC1A mutation in common and provides a unique tool to investigate the factors influencing the vari...Continue Reading

References

Apr 15, 1993·The New England Journal of Medicine·H A Quigley
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Mar 1, 1996·Diabetologia·M MizotaY Omori

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Citations

Jun 30, 2000·The British Journal of Ophthalmology·A P BoothA F Markham
Aug 18, 2000·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·L KirsteinE R Tamm
Nov 5, 1999·Human Molecular Genetics·Z Zhou, D Vollrath
Apr 3, 2003·Journal of Glaucoma·Pauline LimJulia E Richards
Apr 3, 2003·Journal of Glaucoma·José Paulo Cabral de VasconcellosVital Paulino Costa
Feb 28, 2008·Journal of Glaucoma·Maria Luisa Guevara-FujitaRicardo Fujita
Aug 29, 2019·Anais Da Academia Brasileira De Ciências·Jean-François Bach
Jun 10, 2000·Current Opinion in Ophthalmology·W M Budde

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