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© 1995 Oxford University Press

OTHER

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

Agnès Camuzat, Hélène Dollfus, Jean-Michel Rozet, Sylvie Gerber, Dominique Bonneau, Michèle Bonnemaison1, Marie-Louise Briard, Jean-Louis Dufier2, Imad Ghazi2, Corinne Leowski1, Jean Weissenbach3, Jean Frezal, Arnold Munnich and Josseline Kaplan*

Service de Génétique et Unité de Recherches sur les Handicaps Génétiques de I'Enfant, INSERM U. 393, Hôpital des Enfants Malades 149 rue de Sèvres, 75743 Paris cedex 15 1Institut National des Jeunes Aveugles 75015 Paris 2Service d'Ophtalmologie, Hôpital Laënnec 75007 Paris 3Généthon 91002 Evry, France

*To whom correspondence should be addressed

Received April 4, 1995; Revised May 18, 1995; Accepted May 18, 1995

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.


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