SHORT REPORTS

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

A Iwaki¹, Y Kawano², S Miura^1,2,3, H Shibata¹, D Matsuse², W Li², H Furuya⁴, Y Ohyagi², T Taniwaki^2,3, J Kira², Y Fukumaki¹

¹ Division of Human Molecular Genetics, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
² Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
³ Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Fukuoka, Japan
⁴ Department of Neurology, Neuro-Muscular Center, National Omuta Hospital, Fukuoka, Japan

Yasuyuki Fukumaki, Division of Human Molecular Genetics, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka 812-8582, Japan; yfukumak{at}gen.kyushu-u.ac.jp

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.

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"SCA16" is really SCA15

R. J. McKinlay Gardner

J Med Genet, 19 Nov 2007 [Full text]