title: Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
abstract: Usher syndrome is an autosomal recessive disease associating congenital sensorineural deafness and retinitis pigmentosa. Two clinical forms have been recognized, namely a) congenital and severe (type I) and b) later and moderate (type II). A linkage of the D1S81 probe (THH 33) with the gene for type II has been recently demonstrated by Kimberling et al. 1990. Here, a panel of 29 individuals from 6 kindreds with Usher syndrome type I has been tested for possible allelism at the D1S81 locus. A negative lod-score was found with this probe and close linkage to this region could be excluded. These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.
authors.affiliation: Unité de Recherche sur les Handicaps Génétiques de l'Enfant (INSERM U12), Hôpital Necker, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: G
authors.initials: G
authors.lastname: Guasconi
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: J
authors.initials: J
authors.lastname: Melki
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
authors.forename: J
authors.initials: J
authors.lastname: Frézal
mesh_terms: D015139:Blotting, Southern; D002648:Child; D002878:Chromosomes, Human, Pair 1; D015342:DNA Probes; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers