title: Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.
abstract: Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the earliest and most severe inherited retinal dystrophy in human and its genetic heterogeneity has long been recognised. We have recently reported on the first localisation of a disease gene (LCA1) to the short arm of chromosome 17 by homozygosity mapping in five families of North African origin. Here, we refine the genetic mapping of LCA1 to chromosome 17p13 between loci D17S938 and D17S1353 and provide strong support for the genetic heterogeneity of this condition (maximum likelihood for heterogeneity, 17.20 in InL; heterogeneity versus homogeneity, P = 0.0002, heterogeneity versus no linkage, P < 0.0001)
authors.affiliation: Service de Génétique et Unité de Recherches sur les Handicaps, INSERM U. 393, Hôpital des Enfants Malades, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Camuzat
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: I
authors.initials: I
authors.lastname: Perrault
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D001766:Blindness / Q000151:congenital*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D006239:Haplotypes; D006801:Humans; D016013:Likelihood Functions; D008126:Lod Score; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree