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

Research output: Contribution to journalArticle

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    D'Adamo, P., Pinna, M., Capobianco, S., Cesarani, A., D'Eustacchio, A., Fogu, P., Carella, M., Seri, M., & Gasparini, P. (2003). A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Human Genetics, 112(3), 319-320.