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.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  D.-J. Kleinjan and P. Coutinho Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease Brief Funct Genomic Proteomic, July 13, 2009; (2009) elp022v1. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Schneider, T. Marker, A. Daser, G. Frey-Mahn, V. Beyer, R. Farcas, B. Schneider-Ratzke, N. Kohlschmidt, B. Grossmann, K. Bauss, et al. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment Hum. Mol. Genet., February 15, 2009; 18(4): 655 - 666. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Diamandis, A. D. Paterson, J. M. Rommens, D. K. Veljkovic, J. Blavignac, D. E. Bulman, J. S. Waye, F. Derome, G. E. Rivard, and C. P. M. Hayward Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes Blood, February 12, 2009; 113(7): 1543 - 1546. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. A. Bien-Willner, P. Stankiewicz, and J. R. Lupski SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway Hum. Mol. Genet., May 15, 2007; 16(10): 1143 - 1156. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Liu and U. Francke Identification of cis-regulatory elements for MECP2 expression Hum. Mol. Genet., June 1, 2006; 15(11): 1769 - 1782. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. P. Vore, E. H. Chang, J. E. Hoppe, M. G. Butler, S. Forrester, M. C. Schneider, L. L. H. Smith, D. W. Burke, C. A. Campbell, and R. J. H. Smith Deletion of and Novel Missense Mutation in POU3F4 in 2 Families Segregating X-Linked Nonsyndromic Deafness Arch Otolaryngol Head Neck Surg, December 1, 2005; 131(12): 1057 - 1063. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Ahituv, S. Prabhakar, F. Poulin, E. M. Rubin, and O. Couronne Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny Hum. Mol. Genet., October 15, 2005; 14(20): 3057 - 3063. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A Sharp, K Kusz, J Jaruzelska, W Tapper, M Szarras-Czapnik, J Wolski, and P Jacobs Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects J. Med. Genet., May 1, 2005; 42(5): 420 - 427. [Full Text] [PDF]
|
|
|
|
|
|
N. Ahituv, E. M. Rubin, and M. A. Nobrega Exploiting human-fish genome comparisons for deciphering gene regulation Hum. Mol. Genet., October 1, 2004; 13(suppl_2): R261 - R266. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J A Veltman, H G Yntema, D Lugtenberg, H Arts, S Briault, E H L P G Huys, K Osoegawa, P de Jong, H G Brunner, A Geurts van Kessel, et al. High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation J. Med. Genet., June 1, 2004; 41(6): 425 - 432. [Full Text] [PDF]
|
|
|
|
|
|
H Sugawara, M Egashira, N Harada, T C Jakobs, K Yoshiura, T Kishino, T Ohta, N Niikawa, and N Matsumoto Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia J. Med. Genet., July 1, 2002; 39(7): e34 - 34. [Full Text] [PDF]
|
|
|
|
|
|
W Balemans, N Patel, M Ebeling, E Van Hul, W Wuyts, C Lacza, M Dioszegi, F G Dikkers, P Hildering, P J Willems, et al. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease J. Med. Genet., February 1, 2002; 39(2): 91 - 97. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. M Martin, F. J Probst, S. A Camper, and E. M Petty Characterisation and genetic mapping of a new X linked deafness syndrome J. Med. Genet., November 1, 2000; 37(11): 836 - 841. [Abstract] [Full Text]
|
|
|
|
|
|
B. Arellano, R. Ramirez Camacho, J. R. Garcia Berrocal, M. Villamar, I. del Castillo, and F. Moreno Sensorineural Hearing Loss and Mondini Dysplasia Caused by a Deletion at Locus DFN3 Arch Otolaryngol Head Neck Surg, September 1, 2000; 126(9): 1065 - 1069. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. J. Willems Genetic Causes of Hearing Loss N. Engl. J. Med., April 13, 2000; 342(15): 1101 - 1109. [Full Text] [PDF]
|
|
|
|
|
|
D. Phippard, Y. Boyd, V. Reed, G. Fisher, W. K. Masson, E. P. Evans, J. C. Saunders, and E. B. Crenshaw III The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear Hum. Mol. Genet., January 1, 2000; 9(1): 79 - 85. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Marahrens X-inactivation by chromosomal pairing events Genes & Dev., October 15, 1999; 13(20): 2624 - 2632. [Full Text]
|
|