Human Genetics

, Volume 112, Issue 1, pp 24–28

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29

  • Silvia Modamio-Høybjør
  • Miguel Moreno-Pelayo
  • Angeles Mencía
  • Ignacio del Castillo
  • Sebastian Chardenoux
  • Daniel Armenta
  • Mark Lathrop
  • Christine Petit
  • Felipe Moreno
Original Investigation

DOI: 10.1007/s00439-002-0836-x

Cite this article as:
Modamio-Høybjør, S., Moreno-Pelayo, M., Mencía, A. et al. Hum Genet (2003) 112: 24. doi:10.1007/s00439-002-0836-x

Abstract.

Hereditary non-syndromic sensorineural hearing loss (NSSHL) is a genetically highly heterogeneous group of disorders. Autosomal dominant forms account for up to 20% of cases. To date, 39 loci have been identified by linkage analysis of affected families that segregate NSSHL forms in the autosomal dominant mode (DFNA). Investigation of a large Spanish pedigree with autosomal dominant inheritance of bilateral and progressive NSSHL of postlingual onset excluded linkage to known DFNA loci and, in a subsequent genome-wide scan, the disorder locus was mapped to 3q28–29. A maximum two-point LOD score of 4.36 at θ=0 was obtained for marker D3S1601. Haplotype analysis placed the novel locus, DFNA44, within a 3-cM genetic interval defined by markers D3S1314 and D3S2418. Heteroduplex analysis and DNA sequencing of coding regions and exon/intron boundaries of two genes (CLDN16 and FGF12) in this interval did not reveal disease-causing mutations.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Silvia Modamio-Høybjør
    • 1
  • Miguel Moreno-Pelayo
    • 1
  • Angeles Mencía
    • 1
  • Ignacio del Castillo
    • 1
  • Sebastian Chardenoux
    • 2
  • Daniel Armenta
    • 3
  • Mark Lathrop
    • 4
  • Christine Petit
    • 2
  • Felipe Moreno
    • 1
  1. 1.Unidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar Km 9, 28034, Madrid, Spain
  2. 2.Unité de Genetique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, Paris, France
  3. 3.Unidad de Genética, Hospital Universitario "Puerta del Mar", Cadiz, Spain
  4. 4.Centre National de Genotypage, Evry, France

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