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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1995 Jan;56(1):224–230.

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

C Piussan 1, A Hanauer 1, N Dahl 1, M Mathieu 1, C Kolski 1, V Biancalana 1, S Heyberger 1, V Strunski 1
PMCID: PMC1801308  PMID: 7825582

Abstract

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.

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Selected References

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