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A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP Gene
Hiroshi Ujike, MD, PhD;
Yasuyuki Tanabe, MD, PhD;
Yasushi Takehisa, MD;
Toshiyuki Hayabara, MD, PhD;
Shigetoshi Kuroda, MD, PhD
Arch Neurol. 2001;58:1004-1007.
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 the DDP gene.
Conclusion The existence of a DDS family of Japanese origin with a new kind of
mutation in the DDP gene provides additional evidence
that the DDP gene is a causative gene for X-linked
DDS.
From the Department of Neuropsychiatry, Okayama University Medical
School (Drs Ujike, Takehisa, and Kuroda), and the Department of Neurology,
National Sanatorium, Minami-Okayama Hospital (Drs Tanabe and Hayabara), Okayama,
Japan.
Corresponding author and reprints: Hiroshi Ujike, MD, PhD, Department
of Neuropsychiatry, Okayama University Medical School, 2-5-1 Shikata-cho,
Okayama 700-8558, Japan (e-mail: hujike{at}cc.okayama-u.ac.jp).
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