title: Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.
abstract: Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch family with autosomal dominantly inherited sensorineural hearing loss was clinically and genetically assessed. The MYO6 gene was selected to be sequenced because of similarities with other, previously described DFNA22 phenotypes and a pathogenic c.3610C > T (p.R1204W) mutation was found to co-segregate with the disease. This missense mutation results in a flat configured audiogram with a mild hearing loss, which becomes severe to profound and gently to steeply downsloping later in life. The age-related typical audiograms (ARTA) constructed for this family resemble presbyacusis. Speech audiometry and results of loudness scaling support the hypothesis that the phenotype of this specific MYO6 mutation mimics presbyacusis.
authors: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. a.oonk@kno.umcn.nl
authors: A M M
authors: AM
authors: Oonk
authors: J M
authors: JM
authors: Leijendeckers
authors: E M
authors: EM
authors: Lammers
authors: N J D
authors: NJ
authors: Weegerink
authors: J
authors: J
authors: Oostrik
authors: A J
authors: AJ
authors: Beynon
authors: P L M
authors: PL
authors: Huygen
authors: H P M
authors: HP
authors: Kunst
authors: H
authors: H
authors: Kremer
authors: A F M
authors: AF
authors: Snik
authors: R J E
authors: RJ
authors: Pennings
mesh_terms: D000161:Acoustic Stimulation; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001301:Audiometry, Pure-Tone; D001302:Audiometry, Speech; D001309:Auditory Threshold; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006309:Hearing / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011304:Presbycusis / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D013067:Speech Perception; D014722:Vestibule, Labyrinth / Q000503:physiopathology; D055815:Young Adult
chemical_list: C089785:myosin VI; D018995:Myosin Heavy Chains