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© 1994 Oxford University Press

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X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions

Irene Huber, Maria Bitner-Gllndzicz1, Yvette J.M. de Kok, Silvère M. van der Maarel, Yumiko Ishikawa-Brush2, Anthony P. Monaco2, David Robinson3, Susan Malcolm1, Marcus E. Pembrey1, Han G. Brunner, Frans P.M. Cremers* and Hans-Hilger Ropers

Department of Human Genetics, University Hospital Nijmegen PO Box 9101, 6500 HB Nijmegen, The Netherlands 1Institute of Child Health, University of London 30 Guilford Street, London WC1N 1EH, UK 2University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford OX3 9DU, UK 3Wessex Regional Genetics Laboratory, Salisbury District Hospital Oldstock, Salisbury SP2 8BJ, UK

*To whom correspondence should be addressed

Received March 30, 1994; Revised May 6, 1994; Accepted May 6, 1994

We have found that the microsatellite marker AFM207zg5 (DXS995) maps to all previously described deletions which are associated with X-linked mixed deafness (DFN3) with or without choroideremia and mental retardation. Employing this marker and pHU16 (DXS26) we have identified two partially overlapping yeast artificial chromosome clones which were used to construct a complete 850 kb cosmid contig. Cosmids from this contig have been tested by Southern blot analysis on DNA from 16 unrelated males with X-linked deafness. Two novel microdeletions were detected in patients which exhibit the characteristic DFN3 phenotype. Both deletions are completely contained within one of the known DFN3-deletions, but one of them does not overlap with two previously described deletions in patients with contiguous gene syndromes consisting of DFN3, chorolderemia, and mental retardation. Assuming that only a single gene is involved, this suggests that the DFN3 gene spans a chromosomal region of at least 400 kb.


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