X-linked progressive mixed deafness: A new microdeletion that involves a more proximal region in Xq21
- Unite de Genetique Clinique, Amiens (France)
- Service d`ORL, Amiens (France)
- Institut de Chimie Biologique, Strasbourg (Germany)
We report a large two-generation pedigree with seven affected males segregating for an X-linked mixed conductive sensorineural deafness. The patients present with atypical Mondini-like dysplasia, dilated petrous facial canal, dilatation of the internal auditory meatus fully connected with enlarged cochlear canals, and, in one patient, a wide bulbous posterior labyrinth. Obligatory carrier females are mildly affected. Molecular characterization of this family revealed a deletion of locus DXS169, in Xq21.1. Loci DXS72 and DXS26, which, respectively, flank DXS169 proximally and distally, were intact. Since a gene responsible for X-linked progressive mixed deafness with perilymphatic gusher (DFN3) has previously been assigned by deletion mapping to a slightly more distal interval between DXS26 and DXS121, this study indicates either two different deafness genes or the involvement of a very large region in Xq21. 35 refs., 5 figs., 1 tab.
- OSTI ID:
- 70387
- Journal Information:
- American Journal of Human Genetics, Vol. 56, Issue 1; Other Information: PBD: Jan 1995
- Country of Publication:
- United States
- Language:
- English
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