title: Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.
abstract: A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.
authors.affiliation: Departamento de Genética, Universidad de Valencia, Valencia, Spain.
authors.forename: J M
authors.initials: JM
authors.lastname: Cuevas
authors.forename: C
authors.initials: C
authors.lastname: Espinós
authors.forename: J M
authors.initials: JM
authors.lastname: Millán
authors.forename: F
authors.initials: F
authors.lastname: Sánchez
authors.forename: M J
authors.initials: MJ
authors.lastname: Trujillo
authors.forename: B
authors.initials: B
authors.lastname: García-Sandoval
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: C
authors.initials: C
authors.lastname: Nájera
authors.forename: M
authors.initials: M
authors.lastname: Beneyto
mesh_terms: D018388:Codon, Terminator / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D004398:Dyneins; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000151:congenital / Q000235:genetics*; D013577:Syndrome
chemical_list: D018388:Codon, Terminator; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D004247:DNA; D009218:Myosins; D004398:Dyneins; D003545:Cysteine