Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4 - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Human Molecular Genetics Année : 1996

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

Yvette de Kok
  • Fonction : Auteur
Erik Vossenaar
  • Fonction : Auteur
Cor Cremers
  • Fonction : Auteur
Niklas Dahl
  • Fonction : Auteur
Ling Hu
  • Fonction : Auteur
Nathan Fischel-Ghodsian
  • Fonction : Auteur
Rick Friedman
  • Fonction : Auteur
Lorne Parnes
  • Fonction : Auteur
Peter Thorpe
  • Fonction : Auteur
Maria Bitner-Glindzicz
  • Fonction : Auteur
Hans-Jürgen Pander
  • Fonction : Auteur
Helmut Heilbronner
  • Fonction : Auteur
Johanna Graveline
  • Fonction : Auteur
Johan den Dunnen
  • Fonction : Auteur
Han Brunner
  • Fonction : Auteur
Hans-Hilger Ropers
  • Fonction : Auteur
Frans Cremers
  • Fonction : Auteur

Résumé

Small mutations in the POU domain gene POU3F4 were recently shown to cause X-linked deafness type 3 (DFN3) in nine unrelated males. The POU3F4 gene was found to be located outside four of five deletions associated with DFN3. Two of these deletions were situated more than 400 kb proximal to POU3F4. Employing PCR analysis of sequence tagged sites from this region we initially identified novel deletions in two DFN3 patients. To investigate this chromosomal segment in more detail, we extended a previously established 850 kb cosmid contig in the centromeric direction to a total size of 1500 kb. Cosmids from this contig were hybridized to DNA of 11 unrelated males with DFN3. In two patients, we identified deletions encompassing the POU3F4 gene and variably sized segments of Xq21.1. In six of the nine remaining patients which lacked mutations in the POU3F4 gene, smaller deletions were identified which, with one exception, overlap in a 8 kb segment 900 kb proximal to the POU3F4 gene. In one patient, we identified several small deletions in the vicinity of the 8 kb DNA segment. Together, deletions account for 56% (13/23) of all known DFN3 mutations, most (10/13) of which do not encompass the POU3F4 gene. The combined molecular data suggest that the deletion hot spot region in Xq21.1 contains another DFN3 gene or, alternatively, a sequence element involved in transcriptional regulation of POU3F4.

Dates et versions

hal-03827941 , version 1 (24-10-2022)

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Citer

Yvette de Kok, Erik Vossenaar, Cor Cremers, Niklas Dahl, Jocelyn Laporte, et al.. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Human Molecular Genetics, 1996, 5 (9), pp.1229-1235. ⟨10.1093/hmg/5.9.1229⟩. ⟨hal-03827941⟩
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