Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26

Massimo Mangino, Elisabetta Flex, Francesca Capon, Federica Sangiuolo, Edoardo Carraro, Francesca Gualandi, Manuela Mazzoli, Alessandro Martini, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

Hearing impairment is the most common inherited human sensory defect. Nonsyndromic Hearing Impairment (NSHI) is the most genetically heterogeneous trait known. Over 70 loci have been mapped and a total of 19 genes have been identified. We report here a novel locus (DFNA 30) for autosomal dominant NSHI that we mapped to chromosome 15q25-26 in an Italian four-generation family. The haplotype analysis has identified a critical interval of 18 cM between markers D15S151 and D15S130. This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. Localisation of the locus DFNA30 is a first step towards the identification of the gene.

Original languageEnglish
Pages (from-to)667-671
Number of pages5
JournalEuropean Journal of Human Genetics
Volume9
Issue number9
DOIs
Publication statusPublished - 2001

Keywords

  • 15q25-26
  • DFNA30
  • Genetic linkage
  • Nonsyndromic hearing impairment

ASJC Scopus subject areas

  • Genetics(clinical)

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