Mutations of MYO6 are associated with recessive deafness, DFNB37

Am J Hum Genet. 2003 May;72(5):1315-22. doi: 10.1086/375122. Epub 2003 Apr 8.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Chromosomes, Human, Pair 6 / genetics*
  • DNA Mutational Analysis
  • Deafness / congenital
  • Deafness / genetics*
  • Family
  • Female
  • Genes, Recessive*
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Myosin Heavy Chains / genetics*
  • Pakistan
  • Pedigree
  • Phenotype


  • myosin VI
  • Myosin Heavy Chains

Associated data

  • GENBANK/AB002387