Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

A. Iwaki, Y. Kawano, S. Miura, H. Shibata, D. Matsuse, W. Li, H. Furuya, Y. Ohyagi, T. Taniwaki, J. Kira, Yasuyuki Fukumaki

研究成果: Contribution to journalArticle

104 引用 (Scopus)

抜粋

We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real time quantitative polymerase chain reaction (PCR) and found a heterozygous deletion of exons 1-48 of ITPR1, but not SUMF1 in SCA16. Breakpoint analysis revealed that the size of the deletion is 313,318 bp and the telomeric breakpoint is located in the middle of their intergenic region. Our data provide evidence that haploinsufficiency of ITPR1 alone causes SCA16 and SCA15.

元の言語英語
ページ(範囲)32-35
ページ数4
ジャーナルJournal of medical genetics
45
発行部数1
DOI
出版物ステータス出版済み - 1 2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Iwaki, A., Kawano, Y., Miura, S., Shibata, H., Matsuse, D., Li, W., Furuya, H., Ohyagi, Y., Taniwaki, T., Kira, J., & Fukumaki, Y. (2008). Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. Journal of medical genetics, 45(1), 32-35. https://doi.org/10.1136/jmg.2007.053942