Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.
Hear Res
; 299: 88-98, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23340379
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Presbiacusia
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Cadenas Pesadas de Miosina
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Mutación Missense
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Audición
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Pérdida Auditiva Sensorineural
Límite:
Adolescent
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Adult
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Aged
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Aged80
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Hear Res
Año:
2013
Tipo del documento:
Article
País de afiliación:
Países Bajos
Pais de publicación:
Países Bajos