title: Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
abstract: Usher syndrome is recognized as the most frequent cause of hereditary deaf-blindness. Usher syndrome type I (USH1), the most severe form of the disease, is characterized by profound congenital sensorineural deafness, constant vestibular dysfunction, and retinitis pigmentosa of prepubertal onset. This form is genetically heterogeneous and five loci (USH1A-E) have been mapped thusfar. However, only the gene responsible for USH1 B (which accounts for approximately 75% of USH1 cases) has been characterized. It encodes a long-tailed unconventional myosin, myosin VIIA, with a predicted 2215 amino acid sequence. Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1. Four novel mutations were thereby identified. The possibility should now be considered of a sequence-based prenatal diagnosis in some of the families affected by this very severe form of Usher syndrome.
authors.affiliation: Unité de Génétique Moléculaire Humaine (URA CNRS 1968), Institut Pasteur, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Lévy
authors.forename: F
authors.initials: F
authors.lastname: Levi-Acobas
authors.forename: S
authors.initials: S
authors.lastname: Blanchard
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: D
authors.initials: D
authors.lastname: Larget-Piet
authors.forename: V
authors.initials: V
authors.lastname: Chenal
authors.forename: X Z
authors.initials: XZ
authors.lastname: Liu
authors.forename: V
authors.initials: V
authors.lastname: Newton
authors.forename: K P
authors.initials: KP
authors.lastname: Steel
authors.forename: S D
authors.initials: SD
authors.lastname: Brown
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Petit
authors.forename: D
authors.initials: D
authors.lastname: Weil
mesh_terms: D001483:Base Sequence; D004247:DNA; D004398:Dyneins; D005796:Genes; D018740:Genetic Heterogeneity; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016296:Mutagenesis; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome; D015837:Vestibular Diseases / Q000235:genetics*
chemical_list: C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D004247:DNA; D009218:Myosins; D004398:Dyneins