2024-03-28T12:05:24Z
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2022-12-14T04:12:01Z
461:462
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
Nakamura, Katsuya
Yoshida, Kunihiro
Makishita, Hideo
Kitamura, Eiko
Hashimoto, Shiori
Ikeda, Shu-ichi
ataxia with oculomotor apraxia type 2 (AOA2)
sensory-motor neuropathy
senataxin
fiber type grouping
We report a 67-year-old Japanese woman with ataxia with oculomotor apraxia type 2 (AOA2). She was born to consanguineous parents and showed a teenage onset, a slowly progressive cerebellar ataxia and sensory-motor neuropathy and an elevated level of serum alpha-fetoprotein (AFP). All of these clinical features were consistent with typical AOA2. She lacked oculomotor apraxia, as frequently observed in previously reported AOA2 patients. She was homozygous for a novel nonsense mutation, Glu385Ter (E385X), in the senataxin gene (SETX). To our knowledge, this is the fifth Japanese family with genetically confirmed AOA2. The mutations in SETX in Japanese AOA2 families are heterogeneous, except for M274I, which has been found in two unrelated families. More extensive screening by serum AFP followed by molecular genetic analysis of SETX in patients with Friedreich's ataxia-like phenotype may show that AOA2 is more common in Japan than previously thought. Journal of Human Genetics (2009) 54, 746-748; doi: 10.1038/jhg.2009.104; published online 6 November 2009
Article
JOURNAL OF HUMAN GENETICS. 54(12):746-748 (2009)
journal article
NATURE PUBLISHING GROUP
2009-12
application/pdf
JOURNAL OF HUMAN GENETICS
12
54
746
748
1434-5161
AA11206160
https://soar-ir.repo.nii.ac.jp/record/3805/files/A_novel_nonsense_mutation_Japanese_family.pdf
eng
19893583
https://pubmed.ncbi.nlm.nih.gov/19893583
10.1038/jhg.2009.104
https://doi.org/10.1038/jhg.2009.104
Copyright© 2009 The Japan Society of Human Genetics