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- Title
Novel De Novo <italic>KCND3</italic> Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
- Authors
Kurihara, Masanori; Ishiura, Hiroyuki; Sasaki, Takuya; Otsuka, Juuri; Hayashi, Toshihiro; Terao, Yasuo; Matsukawa, Takashi; Mitsui, Jun; Kaneko, Juntaro; Nishiyama, Kazutoshi; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Shimizu, Jun; Tsuji, Shoji
- Abstract
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoclonus, and dystonia without a family history. MRI showed cerebellar atrophy, and electroencephalograms showed paroxysmal sharp waves during hyperventilation and photic stimulation. Trio whole-exome sequencing analysis of DNA samples from the patient and his parents revealed a de novo novel missense mutation (c.1150G>A, p.G384S) in <italic>KCND3</italic>, the causative gene of SCA19/22, substituting for evolutionally conserved glycine. The mutation was predicted to be functionally deleterious by bioinformatic analysis. Although pure cerebellar ataxia is the most common clinical feature in SCA19/22 families, extracerebellar symptoms including intellectual disability and myoclonus are reported in a limited number of families, suggesting a genotype-phenotype correlation for particular mutations. Although autosomal recessive diseases are more common in patients with early onset sporadic cerebellar ataxia, the present study emphasizes that such a possibility of de novo mutation should be considered.
- Subjects
JAPAN; SPINOCEREBELLAR ataxia; INTELLECTUAL disabilities; MYOCLONUS; DYSTONIA; ELECTROENCEPHALOGRAPHY; MENTAL health
- Publication
Cerebellum, 2018, Vol 17, Issue 2, p237
- ISSN
1473-4222
- Publication type
Article
- DOI
10.1007/s12311-017-0883-4