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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.

SUBMITTER: Ahmed ZM

PROVIDER: S-EPMC1180285 | biostudies-literature | 2003 May

REPOSITORIES: biostudies-literature

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Mutations of MYO6 are associated with recessive deafness, DFNB37.

Ahmed Zubair M ZM Morell Robert J RJ Riazuddin Saima S Gropman Andrea A Shaukat Shahzad S Ahmad Mussaber M MM Mohiddin Saidi A SA Fananapazir Lameh L Caruso Rafael C RC Husnain Tayyab T Khan Shaheen N SN Riazuddin Sheikh S Griffith Andrew J AJ Friedman Thomas B TB Wilcox Edward R ER

American journal of human genetics 20030408 5

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 ...[more]

PMID: 12687499

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