title: Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.
abstract: 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 (theta = 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.
authors.affiliation: Department of Medical Genetics, University Hospital of Tromsø, Norway.
authors.forename: T
authors.initials: T
authors.lastname: Fagerheim
authors.forename: O
authors.initials: O
authors.lastname: Nilssen
authors.forename: P
authors.initials: P
authors.lastname: Raeymaekers
authors.forename: V
authors.initials: V
authors.lastname: Brox
authors.forename: T
authors.initials: T
authors.lastname: Moum
authors.forename: H H
authors.initials: HH
authors.lastname: Elverland
authors.forename: E
authors.initials: E
authors.lastname: Teig
authors.forename: H H
authors.initials: HH
authors.lastname: Omland
authors.forename: G K
authors.initials: GK
authors.lastname: Fostad
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006316:Hearing Loss, High-Frequency / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D009664:Norway; D010375:Pedigree