title: Mutations of MYO6 are associated with recessive deafness, DFNB37.
abstract: Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V). These mutations, along with a previously published missense allele linked to autosomal dominant progressive hearing loss (DFNA22), provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype.
authors.affiliation: Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
authors.forename: Zubair M
authors.initials: ZM
authors.lastname: Ahmed
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Morell
authors.forename: Saima
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
authors.forename: Shahzad
authors.initials: S
authors.lastname: Shaukat
authors.forename: Mussaber M
authors.initials: MM
authors.lastname: Ahmad
authors.forename: Saidi A
authors.initials: SA
authors.lastname: Mohiddin
authors.forename: Lameh
authors.initials: L
authors.lastname: Fananapazir
authors.forename: Rafael C
authors.initials: RC
authors.lastname: Caruso
authors.forename: Tayyab
authors.initials: T
authors.lastname: Husnain
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Friedman
authors.forename: Edward R
authors.initials: ER
authors.lastname: Wilcox
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D005190:Family; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype
chemical_list: C089785:myosin VI; D018995:Myosin Heavy Chains