title: A gene for Leber's congenital amaurosis maps to chromosome 17p.
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.
authors.affiliation: Service de Génétique, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Camuzat
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: M
authors.initials: M
authors.lastname: Bonnemaison
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
authors.forename: I
authors.initials: I
authors.lastname: Ghazi
authors.forename: C
authors.initials: C
authors.lastname: Leowski
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D005819:Genetic Markers