title: Mutations in MYH9 exons 1, 16, 26, and 30 are infrequently found in Japanese patients with nonsyndromic deafness.
abstract: Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport manifestations, including nephritis, deafness, and cataracts. A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mutations in MYH9 exons 1, 16, 26, and 30 in a total of 157 Japanese patients with nonsyndromic deafness without known cause of hearing loss, but no mutations were found. We conclude that mutations in MYH9 are infrequently found in patients with nonsyndromic deafness and suggest that MYH9 mutations infrequently cause isolated sensorineural hearing loss. Thus, MYH9 may not currently be a good candidate gene for efficient screening of genetic causes in nonsyndromic deafness.
authors: Shinji
authors: S
authors: Kunishima
authors: Tatsuo
authors: T
authors: Matsunaga
authors: Yoshimi
authors: Y
authors: Ito
authors: Hidehiko
authors: H
authors: Saito
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D003638:Deafness / Q000208:ethnology / Q000235:genetics*; D005091:Exons; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains