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

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

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11 Citations (Scopus)

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 12ql3-ql4 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 18cM. Positional candidate genes are being screened for deafness-causing mutations.

Original languageEnglish
Pages (from-to)319-320
Number of pages2
JournalHuman Genetics
Volume112
Issue number3
Publication statusPublished - Mar 2003

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Deafness
Sensation Disorders
Lod Score
Hearing Loss
Genes
Chromosomes
Mutation
Autosomal Dominant 48 Deafness

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. / D'Adamo, Pio; Pinna, Maura; Capobianco, Saverio; Cesarani, Antonio; D'Eustacchio, Angela; Fogu, Pina; Carella, Massimo; Seri, Marco; Gasparini, Paolo.

In: Human Genetics, Vol. 112, No. 3, 03.2003, p. 319-320.

Research output: Contribution to journalArticle

D'Adamo, Pio ; Pinna, Maura ; Capobianco, Saverio ; Cesarani, Antonio ; D'Eustacchio, Angela ; Fogu, Pina ; Carella, Massimo ; Seri, Marco ; Gasparini, Paolo. / A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. In: Human Genetics. 2003 ; Vol. 112, No. 3. pp. 319-320.
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