PMID: 7581387Aug 1, 1995Paper

A gene for Leber's congenital amaurosis maps to chromosome 17p

Human Molecular Genetics
A CamuzatC Leowski

Abstract

Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the first mapping of a gene for LCA to the distal short arm of chromosome 17 by linkage analysis in 15 multiplex families (Zmax = 5.14 at theta = 0.15 for probe AFM070xg5 at the D17S1353 locus). When our sample was split into two groups according to the ethnic origin of the patients we were able to confirm the presence of a gene for LCA on chromosome 17p by both homozygosity mapping and linkage analysis in five families of Maghrebian origin (LCA1, Zmax = 7.21 at theta = 0.01 at the D17S1353 locus), while negative results were found in 10 families of French ancestry. Haplotype analyses supported the placement of LCA1 between loci D17S796 and D17S786 (maximum likelihood estimate for location of the disease gene over the D17S1353 locus). The genetic heterogeneity of LCA will complicate the prenatal detection of this frequent cause of congenital blindness.

Citations

Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Nov 20, 1998·Trends in Genetics : TIG·V C SheffieldR Carmi
Mar 5, 2003·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Elisa FazziGiovanni Lanzi
Jun 1, 1996·Journal of Medical Genetics·E E TarttelinC F Inglehearn
Sep 8, 2001·Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie·K F DamjiR K Koenekoop
Dec 8, 2004·American Journal of Medical Genetics. Part a·Elisa FazziGiovanni Lanzi
Feb 19, 2017·American Journal of Ophthalmology·Samuel G JacobsonShannon E Boye
Nov 5, 1997·Nature Genetics·F MarlhensC P Hamel
Sep 4, 2008·Ophthalmic Genetics·Josseline Kaplan
Feb 24, 2001·International Ophthalmology Clinics·E W Harris
Aug 22, 2020·Translational Vision Science & Technology·Xiao LiuUNKNOWN Japan Eye Genetics Consortium
Oct 21, 1999·Molecular Genetics and Metabolism·I PerraultJ Kaplan
May 29, 2021·Experimental Eye Research·Zhen YiQingjiong Zhang

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