A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene |
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| Authors: | Kok Yvette JMde; Merkx Gerard FM; van der Maarel Silvere M; Huber Irene; Malcolm Susan; Ropers Hans-Hilger; Cremers Frans PM |
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| Institution: | Department of Human Genetics, University Hospital Nijmegen Geert Grooteplein Zuid 20, 6525 GA Nijmegen, The Netherlands
1Institute of Child Health, University of London 30 Guilford Street, London WC 1N 1EH, UK |
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| Abstract: | X-linked deafness with stapes fixation (DFN3) is caused by mutationsin the POU3F4 gene at Xq21.1. By employing pulsed field gelelectrophoresis (PFGE) we identified a chromosomal aberrationin the DNA of a DFN3 patient who did not show alterations inthe open reading frame (ORF) of POU3F4. Southern blot analysisindicated that a DNA segment of 150 kb, located 170 kb proximalto the POU3F4 gene, was duplicated. Fluorescence in situ hybridization(FISH) analysis, PFGE, and detailed Southern analysis revealedthat this duplication is part of a more complex rearrangementincluding a paracentric inversion involving the Xq21.1 region,and presumably the Xq21.3 region. Since at least two DFN3-associatedminideletions are situated proximal to the duplicated segment,the inversion most likely disconnects the POU3F4 gene from aregulatory element which is located at a distance of at least400 kb upstream of the POU3F4 gene. |
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