RT Journal Article
SR Electronic
T1 Heterozygous deletion of <em>ITPR1</em>, but not <em>SUMF1</em>, in spinocerebellar ataxia type 16
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 32
OP 35
DO 10.1136/jmg.2007.053942
VO 45
IS 1
A1 Iwaki, A
A1 Kawano, Y
A1 Miura, S
A1 Shibata, H
A1 Matsuse, D
A1 Li, W
A1 Furuya, H
A1 Ohyagi, Y
A1 Taniwaki, T
A1 Kira, J
A1 Fukumaki, Y
YR 2008
UL http://jmg.bmj.com/content/45/1/32.abstract
AB 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.