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A Novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family

D'Adamo, Pio and Pinna, Maura and Capobianco, Saverio and Cesarani, Antonio and D'Eustacchio, Angela and Fogu, Giuseppa and Carella, Massimo and Seri, Marco and Gasparini, Paolo (2003) A Novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Human Genetics, Vol. 112 (3), p. 319-320. eISSN 1432-1203. Article.

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DOI: 10.1007/s00439-002-0880-6

Abstract

Non-syndromic hearing loss is the most common sensory disorder in humans; 15%–20% of cases are transmitted as a dominant trait (NSDA) with 40 loci having been mapped and 16 genes having been identified. Here, we report the mapping of a novel NSDA locus, DFNA48, to chromosome 12q13-q14 in a large multigenerational Italian family. A maximum lod score of 3.31 was obtained with marker D12S83, whereas markers D12S347 and D12S1703 defined a region of approximately 18 cM. Positional candidate genes are being screened for deafnesscausing mutations.

Item Type:Article
ID Code:5399
Status:Published
Refereed:Yes
Uncontrolled Keywords:National Spasmodic Dysphonia Association (NSDA), DFNA48 locus, deafness, Italian family
Subjects:Area 06 - Scienze mediche > MED/32 Audiologia
Area 05 - Scienze biologiche > BIO/18 Genetica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
001 Università di Sassari > 03 Istituti > Oftalmologia, Otorinolaringoiatria e Urologia
Publisher:Springer Berlin / Heidelberg
eISSN:1432-1203
Copyright Holders:© Springer-Verlag 2002
Deposited On:28 Jan 2011 13:38

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