Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
Cerebellum
; 17(2): 237-242, 2018 Apr.
Article
em En
| MEDLINE
| ID: mdl-28895081
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 KCND3, 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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxia Cerebelar
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Distonia
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Canais de Potássio Shal
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Deficiência Intelectual
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Mutação
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Mioclonia
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
Cerebellum
Assunto da revista:
CEREBRO
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Japão