2. Academic Validation
  3. Mutations of MYO6 are associated with recessive deafness, DFNB37

Mutations of MYO6 are associated with recessive deafness, DFNB37

  • Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122.
Zubair M Ahmed 1,  Robert J Morell,  Saima Riazuddin,  Andrea Gropman,  Shahzad Shaukat,  Mussaber M Ahmad,  Saidi A Mohiddin,  Lameh Fananapazir,  Rafael C Caruso,  Tayyab Husnain,  Shaheen N Khan,  Sheikh Riazuddin,  Andrew J Griffith,  Thomas B Friedman,  Edward R Wilcox
Affiliations

Affiliation

  • 1 Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
PMID: 12687499 DOI: 10.1086/375122
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.

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