A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.
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.


CONCLUSIONS
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.
Ujike
H
H
Department of Neuropsychiatry, Okayama University Medical School, 2-5-1 Shikata-cho, Okayama 700-8558, Japan. hujike@cc.okayama-u.ac.jp
Tanabe
Y
Y
Takehisa
Y
Y
Hayabara
T
T
Kuroda
S
S
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003638:Deafness / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D011506:Proteins; C118122:TIMM8A protein, human