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Whole‐exome sequencing reveals a missense mutation in the KCND 3 gene in a patient with SCA 19/22
Author(s) -
Wang Ying,
Koh Kishin,
Namekawa Michito,
Takiyama Yoshihisa
Publication year - 2015
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12004
Subject(s) - missense mutation , mutation , medicine , exome sequencing , ataxia , spinocerebellar ataxia , genetics , cerebellar ataxia , gene , biology , psychiatry
We report a 45‐year‐old Japanese man with SCA 19/22. Whole‐exome sequencing revealed a heterozygous missense mutation (c.1169G>A, p.S390N) in the KCND 3 gene. Although this mutation has been reported to cause SCA 19 in a Dutch patient, a co‐segregation study of the mutation has not been carried out. In the present family, since the S390M mutation was found in the patient but not in the unaffected siblings, we suspected co‐segregation of this mutation with the disease in our family. Our patient presented with juvenile‐onset pure cerebellar ataxia associated with pes cavus, which has not been previously described in SCA 19/22. Thus, our patient would expand the clinical spectrum of SCA 19/22. In the case of juvenile‐onset pure cerebellar ataxia with autosomal dominant transmission, SCA 19/22 should be considered.