Deletion mapping of X-linked mixed deafness (DFN3) identified a 265-525-kb region centromeric of DXS26
- Universite de Strasbourg (France)
- Centre d`Etude du Polymorphisme Humain, Paris (France)
- Universite d`Amiens (France)
Nonsyndromic X-linked deafness is a rare cause of hereditary deafness accounting for {approximately}5% of all congenital deafness. The DFN3 locus (MIM 304400) has previously been mapped to the Xq13-21 region by linkage analyses and was further substantiated by the observation of deafness segregating with deletions involving this region. Molecular characterization of the deletions have indicated that the DFN3 gene is located in proximal Xq21, centromeric of the choroideremia locus (CHM). Several marker loci at Xq21 are located within the different deletions, and a critical region has been suggested around DXS232, giving the likely order Xqcen-DXS169-DXS26-(DXS232, DFN3)-DXS121. The lack of critical deletions and physical maps and clones covering the region has hampered a more accurate mapping of DFN3. In addition, the clinical heterogeneity of nonsyndromic X-linked deafness has been confirmed by linkage studies, suggesting the existence of two distinct loci in Xq13-q21. A recent report based on studies of several deletions estimates the DFN3 candidate region to {approximately}400 kb around DXS26. We report here physical cloning of a region associated with DFN3 in a YAC. Detailed mapping of three deletions associated with DFN3 has enabled us to further map a region centromeric of DXS26 involved in the disease. 16 refs., 1 fig., 1 tab.
- OSTI ID:
- 70433
- Journal Information:
- American Journal of Human Genetics, Vol. 56, Issue 4; Other Information: PBD: Apr 1995
- Country of Publication:
- United States
- Language:
- English
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