Literature DB >> 12596055

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

Pio D'Adamo1, Maura Pinna, Saverio Capobianco, Antonio Cesarani, Angela D'Eustacchio, Pina Fogu, Massimo Carella, Marco Seri, Paolo Gasparini.   

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 deafness-causing mutations.

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Year:  2002        PMID： 12596055     DOI： 10.1007/s00439-002-0880-6

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

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3.  Faster sequential genetic linkage computations.

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Journal:  Clin Genet       Date:  2006-05       Impact factor: 4.438

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3.  Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

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Journal:  Am J Hum Genet       Date:  2003-05-06       Impact factor: 11.025

4.  The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.

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Journal:  Open Biol       Date:  2014-07       Impact factor: 6.411
  4 in total

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