X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions |
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| Authors: | Huber, Irene Bitner-Gllndzicz, Maria de Kok, Yvette J.M. van der Maarel, Silvere M. Ishikawa-Brush, Yumiko Monaco, Anthony P. Robinson, David Malcolm, Susan Pembrey, Marcus E. Brunner, Han G. Cremers, Frans P.M. Ropers, Hans-Hilger |
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| Affiliation: | 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 |
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| Abstract: | We have found that the microsatellite marker AFM207zg5 (DXS995)maps to all previously described deletions which are associatedwith X-linked mixed deafness (DFN3) with or without choroideremiaand mental retardation. Employing this marker and pHU16 (DXS26)we have identified two partially overlapping yeast artificialchromosome clones which were used to construct a complete 850kb cosmid contig. Cosmids from this contig have been testedby Southern blot analysis on DNA from 16 unrelated males withX-linked deafness. Two novel microdeletions were detected inpatients which exhibit the characteristic DFN3 phenotype. Bothdeletions are completely contained within one of the known DFN3-deletions,but one of them does not overlap with two previously describeddeletions in patients with contiguous gene syndromes consistingof DFN3, chorolderemia, and mental retardation. Assuming thatonly a single gene is involved, this suggests that the DFN3gene spans a chromosomal region of at least 400 kb. |
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