A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP Gene

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Abstract
Background X-linked dystonia-deafness syndrome (DDS) is characterized by early-onset deafness followed by progressive dystonia in adulthood. Only 4 families with the syndrome have been reported, and all were white. Objective To describe the first nonwhite family with X-linked DDS, involving 5 affected males in 4 generations. Results Clinical features of the family members, who were Japanese, were mostly consistent with reports of DDS in whites except for a lack of visual disturbances. Whereas microdeletions in the deafness-dystonia peptide (DDP) gene were found in 2 white DDS families, our patients showed a novel mutation (arg80ter) in exon 2 of theDDPgene. Conclusion The existence of a DDS family of Japanese origin with a new kind of mutation in theDDPgene provides additional evidence that theDDPgene is a causative gene for X-linked DDS.