title: MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
abstract: BACKGROUND
  Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea and maps to chromosome 19p13.3-13.2.
  
  
  OBJECTIVE
  To evaluate MYO1F as a candidate gene for deafness at the DFNB15 locus by determining its genomic structure and screening each exon for deafness-causing mutations to identify possible allele variants of MYO1F segregating in the DFNB15 family.
  
  
  METHODS
  We used radiation hybrid mapping to localize MYO1F on chromosome arm 19p. We next determined its genomic structure using multiple long-range polymerase chain reaction experiments. Using these data, we completed mutation screening using single-stranded conformational polymorphism analysis and direct sequencing of affected and nonaffected persons in the original DFNB15 family.
  
  
  RESULTS
  Radiation hybrid mapping placed MYO1F in the DFNB15 interval, establishing it as a positional candidate gene. Its genomic structure consists of 24 coding exons. No mutations or genomic rearrangements were found in the original DFNB15 family, making it unlikely that MYO1F is the disease-causing gene in this kindred.
  
  
  CONCLUSIONS
  Although we did not find MYO1F allele variants in one family with autosomal recessive nonsyndromic hearing loss, the gene remains an excellent candidate for hereditary hearing impairment. Given its wide tissue expression, MYO1F might cause syndromic deafness.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospital and Clinics, Iowa City, IA 52242, USA.
authors.forename: A H
authors.initials: AH
authors.lastname: Chen
authors.forename: D A
authors.initials: DA
authors.lastname: Stephan
authors.forename: T
authors.initials: T
authors.lastname: Hasson
authors.forename: K
authors.initials: K
authors.lastname: Fukushima
authors.forename: C M
authors.initials: CM
authors.lastname: Nelissen
authors.forename: A F
authors.initials: AF
authors.lastname: Chen
authors.forename: A I
authors.initials: AI
authors.lastname: Jun
authors.forename: A
authors.initials: A
authors.lastname: Ramesh
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D018076:DNA, Complementary / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D051379:Mice; D009154:Mutation; D009218:Myosins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D021101:Radiation Hybrid Mapping; D017422:Sequence Analysis, DNA
chemical_list: D018076:DNA, Complementary; D009218:Myosins