A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21
Open Access
- 1 November 2004
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 41 (11) , 872-876
- https://doi.org/10.1136/jmg.2004.020628
Abstract
AN may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease2 and Freidreich’s ataxia.3 AN unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait,4– 6 but X linked recessive6 and autosomal dominant7 forms have also been described. We have mapped a gene responsible for autosomal dominant auditory neuropathy in a multigenerational family from the United States to a novel locus, AUNA1 (auditory neuropathy, dominant, 1) on 13q14–21.Keywords
This publication has 19 references indexed in Scilit:
- Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)Human Mutation, 2003
- Familial Auditory NeuropathyThe Laryngoscope, 2003
- Auditory neuropathy/dyssynchronyPediatric Clinics of North America, 2003
- Beethoven, a mouse model for dominant, progressive hearing loss DFNA36Nature Genetics, 2002
- Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionNature Genetics, 2002
- DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24American Journal of Human Genetics, 2001
- IntroductionEar & Hearing, 1996
- Auditory neuropathyBrain, 1996
- Homozygotes for Huntington's diseaseNature, 1987
- Abnormal auditory evoked potentials in hereditary motor‐sensory neuropathyAnnals of Neurology, 1979