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A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21

A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21 Letter to the Editor A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21 To the Editor: Hearing loss (HL) is one of the most genetically heterogeneous disorders known. Post-lingual HL affects 10% of the population by the age of 60 years, with genetic causes playing an important role (1). Non-syndromic deafness represents 70% of all hereditary cases. Autosomal dominant inheritance probably accounts for 20% of all cases of non-syndromic hereditary deafness, usually with post-lingual onset and progressive manifestation (2). Although 41 loci associated with autosomal dominant non-syndromic sensorineural hearing loss (ADNSSHL) have been mapped by linkage analysis in large families, to date, 22 different genes have been identified (3, 4) with practically no repetition, indicating the vast genetic heterogeneity involved and the potential of big deafness families to reveal new genes involving auditory system functions. In this study, we describe a Brazilian family with 12 individuals affected by bilateral post-lingual and progressive HL (Fig. 1). The hearing impairment is initially presented as mild and affecting high frequencies in all patients (downsloping audiometric curve configuration) but becoming more severe and affecting all frequencies with time (flat audiometric curve configuration). Syndromic features were ruled out by physical examination and http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21

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References (7)

Publisher
Wiley
Copyright
Journal compilation © 2009 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2008.01130.x
pmid
19159392
Publisher site
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Abstract

Letter to the Editor A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21 To the Editor: Hearing loss (HL) is one of the most genetically heterogeneous disorders known. Post-lingual HL affects 10% of the population by the age of 60 years, with genetic causes playing an important role (1). Non-syndromic deafness represents 70% of all hereditary cases. Autosomal dominant inheritance probably accounts for 20% of all cases of non-syndromic hereditary deafness, usually with post-lingual onset and progressive manifestation (2). Although 41 loci associated with autosomal dominant non-syndromic sensorineural hearing loss (ADNSSHL) have been mapped by linkage analysis in large families, to date, 22 different genes have been identified (3, 4) with practically no repetition, indicating the vast genetic heterogeneity involved and the potential of big deafness families to reveal new genes involving auditory system functions. In this study, we describe a Brazilian family with 12 individuals affected by bilateral post-lingual and progressive HL (Fig. 1). The hearing impairment is initially presented as mild and affecting high frequencies in all patients (downsloping audiometric curve configuration) but becoming more severe and affecting all frequencies with time (flat audiometric curve configuration). Syndromic features were ruled out by physical examination and

Journal

Clinical Genetics – Wiley

Published: May 1, 2009

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