A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred

Nonsyndromic hearing loss is one of the most genetically heterogeneous traits known. A total of 30 autosomal dominant nonsyndromic hearing–loss loci have been mapped, and 11 genes have been isolated. In the majority of cases, autosomal dominant nonsyndromic hearing loss is postlingual and progressiv...

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Bibliographic Details
Published in:American journal of human genetics 2000-04, Vol.66 (4), p.1437-1442
Main Authors: Häfner, Franziska M., Salam, Ambar A., Linder, Thomas E., Balmer, Damina, Baumer, Allessandra, Schinzel, Albert A., Spillmann, Thomas, Leal, Suzanne M.
Format: Article
Language:English
Subjects:
ArgBP2
Biological and medical sciences
Child, Preschool
Chromosome 4q35-qter
Chromosome Mapping
Chromosomes, Human, Pair 4 - genetics
Deafness
Deafness - genetics
Deafness - physiopathology
DFNA24
Disease Progression
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Expressed Sequence Tags
Facioscapulohumeral muscular dystrophy (FSHD1A)
Female
Genes - genetics
Genes, Dominant - genetics
Genetic Heterogeneity
Genetic Markers - genetics
Germany
Humans
Lod Score
Male
Medical sciences
Non tumoral diseases
Nonsyndromic hearing loss
Otorhinolaryngology. Stomatology
Pedigree
Software
Switzerland
Syndrome
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Summary:Nonsyndromic hearing loss is one of the most genetically heterogeneous traits known. A total of 30 autosomal dominant nonsyndromic hearing–loss loci have been mapped, and 11 genes have been isolated. In the majority of cases, autosomal dominant nonsyndromic hearing loss is postlingual and progressive, with the exception of hearing impairment in families in which the impairment is linked to DFNA3, DFNA8/12, and DFNA24, the novel locus described in this report. DFNA24 was identified in a large Swiss German kindred with a history of autosomal dominant hearing loss that dates back to the middle of the 19th century. The hearing-impaired individuals in this kindred have prelingual, nonprogressive, bilateral sensorineural hearing loss affecting mainly mid and high frequencies. The DFNA24 locus maps to 4q35-qter. A maximum multipoint LOD score of 11.6 was obtained at 208.1 cM at marker D4S1652. The 3.0-unit support interval for the map position of this locus ranges from 205.8 cM to 211.7 cM (5.9 cM).
ISSN:0002-9297
1537-6605
DOI:10.1086/302865