X-Linked Progressive MixedDeafness: A New Microdeletion ThatInvolves a MoreProximal RegioninXq2 I

Summary We report alarge two-generation pedigree withseven affected males segregating foranX-linked mixed conductive sensorineural deafness. Thepatients present with atypical Mondini-like dysplasia, dilated petrous facial canal, dilatation oftheinternal auditory meatus fully connected with enlarged cochlear canals, and, inonepatient, awide bulbous posterior labyrinth. Obligatory carrier females aremildly affected. Molecular characterization of this family revealed adeletion oflocus DXS169, in Xq21.1. LociDXS72andDXS26,which, respectively, flank DXS169proximally anddistally, wereintact. Since ageneresponsible forX-linked progressive mixed deafness withperilymphatic gusher (DFN3) haspreviously beenassigned bydeletion mapping toaslightly moredistal interval between DXS26andDXS121, this study indicates either twodifferent deafness genes ortheinvolvementofavery large region inXq21.

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