Human Molecular Genetics, Vol 5, 1229-1235, Copyright © 1996 by Oxford University Press
YJ de Kok, ER Vossenaar, CW Cremers, N Dahl, J Laporte, LJ Hu, D Lacombe, N Fischel-Ghodsian, RA Friedman, LS Parnes, P Thorpe, M Bitner-Glindzicz, HJ Pander, H Heilbronner, J Graveline, JT den Dunnen, HG Brunner, HH Ropers and FP Cremers
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.
ARTICLES
Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
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