Identification of a New Locus for Autosomal Dominant Non-Syndromic Hearing Impairment (DFNA7) in a Large Norwegian Family

Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have...

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Bibliographic Details
Published in:Human molecular genetics 1996-08, Vol.5 (8), p.1187-1191
Main Authors: Fagerheim, T., Nilssen, Ø., Raeymaekers, P., Brox, V., Moum, T., Elverland, H. H., Teig, E., Omland, H. H., Fostad, G. K., Tranebjærg, L.
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Biological and medical sciences
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 1 - genetics
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
Genes, Dominant
Genetic Linkage
Hearing Loss, High-Frequency - genetics
Hearing Loss, Sensorineural - genetics
Humans
Infant, Newborn
Lod Score
Male
Medical sciences
Microsatellite Repeats
Non tumoral diseases
Norway
Otorhinolaryngology. Stomatology
Pedigree
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Summary:Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific clinical abnormalities. Analysis of large families with non-syndromic and syndromic deafness have been used to identify genes or gene locations that cause hearing impairment. The present report describes a large Norwegian family with autosomal dominant non-syndromic, progressive high tone hearing loss with linkage to 1q21–q23. A maximum LOD score of 7.65 (θ = 0.00) was obtained with the microsatellite marker D1S196. Analysis of recombinant individuals maps the deafness gene (DFNA7) to a 22 cM region between D1S104 and D1S466. The region contains several attractive candidate genes. This report supports the idea of extensive genetic heterogeneity in hereditary hearing impairment and represents the first localization of a deafness gene in a Norwegian family.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/5.8.1187