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Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15


Bönsch, D; Schmidt, C M; Scheer, P; Bohlender, J; Neumann, C; am Zehnhoff-Dinnesen, A; Deufel, T (2008). Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15. HNO, 56(2):177-182.

Abstract

BACKGROUND: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. METHODS: In this study a German pedigree has been identified segregating a progressive bilateral loss of lower and middle frequencies. RESULTS: A genome-wide screening and linkage analysis revealed the existence of a new NSSHL locus (DFNA57). The phenotype was mapped to a 10 degrees Mbp interval on chromosome 19p13.2 from 7.8 to 18.2 degrees Mbp, a maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15. CONCLUSION: The results underline the heterogeneity of hereditary hearing disorders. Identification of genes can help to reach a better understanding of the molecular mechanism of hearing.

Abstract

BACKGROUND: Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 54 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. METHODS: In this study a German pedigree has been identified segregating a progressive bilateral loss of lower and middle frequencies. RESULTS: A genome-wide screening and linkage analysis revealed the existence of a new NSSHL locus (DFNA57). The phenotype was mapped to a 10 degrees Mbp interval on chromosome 19p13.2 from 7.8 to 18.2 degrees Mbp, a maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15. CONCLUSION: The results underline the heterogeneity of hereditary hearing disorders. Identification of genes can help to reach a better understanding of the molecular mechanism of hearing.

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Additional indexing

Other titles:A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15
Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Otorhinolaryngology
Dewey Decimal Classification:610 Medicine & health
Language:German
Date:2008
Deposited On:07 Oct 2008 12:37
Last Modified:05 Apr 2016 12:29
Publisher:Springer
ISSN:0017-6192
Publisher DOI:https://doi.org/10.1007/s00106-007-1633-6
PubMed ID:18066515

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