title: Genetic heterogeneity of deafness phenotypes linked to DFNA4.
abstract: Mutations in the heavy chain of the class II nonmuscle myosin, MYH14, cause autosomal dominant hearing loss in families linked to the DFNA4 locus. Consistent with this discovery, we identified an S120L mutation in MYH14 in a large German family segregating deafness that links to DFNA4. However, complete screening of the American family that originally defined the DFNA4 locus revealed no mutations in this gene. Furthermore, haplotyping of a single nucleotide polymorphism (SNP) 5' to MYH14 excludes this gene from the critical region in this family. Our results imply that mutations in another gene result in deafness at the DFNA4 locus. The newly defined candidate region encompasses a region of approximately 19 cM. Several candidate genes have been screened for disease-causing mutations.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.forename: Markus
authors.initials: M
authors.lastname: Pfister
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Blin
authors.forename: Hans P
authors.initials: HP
authors.lastname: Zenner
authors.forename: Carsten M
authors.initials: CM
authors.lastname: Pusch
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D000595:Amino Acid Sequence; D002352:Carrier Proteins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D024462:Myosin Type II / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017385:Sequence Homology
chemical_list: D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human