Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

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 dis...

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Bibliographic Details
Published in:Human genetics 1996-06, Vol.97 (6), p.798-801
Main Authors: CAMUZAT, A, ROZET, J.-M, DOLLFUS, H, GERBER, S, PERRAULT, I, WEISSENBACH, J, MUNNICH, A, KAPLAN, J
Format: Article
Language:English
Subjects:
Biological and medical sciences
Blindness - congenital
Chromosome Mapping
Chromosomes, Human, Pair 17 - genetics
Female
Genetic Heterogeneity
Haplotypes
Humans
Likelihood Functions
Lod Score
Male
Medical sciences
Ophthalmology
Optic Atrophies, Hereditary - genetics
Pedigree
Retinopathies
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Summary: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)
ISSN:0340-6717
1432-1203
DOI:10.1007/BF02346192