A new locus (DFNA47) for autosomal dominant nonsyndromic inherited hearing loss maps to 9p21-22 in a large Italian family

Pio D'Adamo, Francesca Donaudy, Angela D'Eustacchio, Enzo Di Iorio, Salvatore Melchionda, Paolo Gasparini

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Hearing loss is the most common sensory disorder in humans, and genetic factors are a major cause. Approximately 15-20% of genetic cases exhibit an autosomal dominant pattern of transmission. So far, 41 autosomal dominant loci have been mapped and 17 genes have been identified. Here we report the mapping of a novel locus for autosomal dominant non-syndromic hearing loss, DFNA47, to chromosome 9p21-22 in a large multigenerational Italian family with progressive hearing impairment. Most affected individuals noticed hearing impairment after their teens with subsequent gradual progression to a moderate-severe loss. There were no obvious vestibular dysfunction and other associated abnormalities. A maximum lod score of 3.14 was obtained with marker D9S157 (at θ=0) after a genome wide search. The study of additional markers allowed us to confirm this region with positive lod scores of 3.58 (at θ=0 from D9S285) and of 3.67 (at θ=0 from D9S162). Recombinants define a region of approximately 9 cM flanked by markers D9S268 and D9S942. Multipoint linkage analysis showed a Lod score of 4.26. Few known genes map to the region, and those possibly related by function to hearing are being screened for disease-causing mutations.

Original languageEnglish
Pages (from-to)121-124
Number of pages4
JournalEuropean Journal of Human Genetics
Volume11
Issue number2
DOIs
Publication statusPublished - Feb 1 2003

Fingerprint

Lod Score
Hearing Loss
Sensation Disorders
Chromosomes, Human, Pair 22
Medical Genetics
Hearing
Genes
Genome
Mutation
Autosomal Dominant 47 Deafness
Nonsyndromic Deafness

Keywords

  • 9p21-22
  • Autosomal dominant nonsyndromic hearing loss
  • DFNA47

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A new locus (DFNA47) for autosomal dominant nonsyndromic inherited hearing loss maps to 9p21-22 in a large Italian family. / D'Adamo, Pio; Donaudy, Francesca; D'Eustacchio, Angela; Di Iorio, Enzo; Melchionda, Salvatore; Gasparini, Paolo.

In: European Journal of Human Genetics, Vol. 11, No. 2, 01.02.2003, p. 121-124.

Research output: Contribution to journalArticle

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