MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

• Published in: American journal of human genetics Vol. 69; no. 3; pp. 635 - 640
• Main Authors: Melchionda, Salvatore, Ahituv, Nadav, Bisceglia, Luigi, Sobe, Tama, Glaser, Fabian, Rabionet, Raquel, Arbones, Maria Lourdes, Notarangelo, Angelo, Di Iorio, Enzo, Carella, Massimo, Zelante, Leopoldo, Estivill, Xavier, Avraham, Karen B., Gasparini, Paolo
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.09.2001; University of Chicago Press; The American Society of Human Genetics
• Subjects: Amino Acid Sequence; Animals; Biological and medical sciences; chromosome 6; Chromosome Mapping; Chromosomes, Human, Pair 6; Deafness - genetics; DFNA22 gene; Disease Models, Animal; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Humans; Medical sciences; Mice; Models, Molecular; Molecular Sequence Data; Mutation; MYO6 gene; Myosin Heavy Chains - chemistry; Myosin Heavy Chains - genetics; Non tumoral diseases; Otorhinolaryngology. Stomatology; Pedigree; Protein Conformation; Sequence Homology, Amino Acid; Genetic mapping; Human; Gene; Family study; Autosomal character; Auditory disorder; ENT disease; Dominant character; Chromosome C6; Mutation; Genetic disease; Hearing loss
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/323156

Mutations in the unconventional myosin VI gene, Myo6, are associated with deafness and vestibular dysfunction in the Snell’s waltzer ( sv) mouse. The corresponding human gene, MYO6, is located on chromosome 6q13. We describe the mapping of a new deafness locus, DFNA22, on chromosome 6q13 in a family affected by a nonsyndromic dominant form of deafness (NSAD), and the subsequent identification of a missense mutation in the MYO6 gene in all members of the family with hearing loss.