TY - JOUR
T1 - Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
AU - Iwaki, A.
AU - Kawano, Y.
AU - Miura, S.
AU - Shibata, H.
AU - Matsuse, D.
AU - Li, W.
AU - Furuya, H.
AU - Ohyagi, Y.
AU - Taniwaki, T.
AU - Kira, J.
AU - Fukumaki, Yasuyuki
N1 - Copyright:
Copyright 2009 Elsevier B.V., All rights reserved.
PY - 2008/1
Y1 - 2008/1
N2 - 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.
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.
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U2 - 10.1136/jmg.2007.053942
DO - 10.1136/jmg.2007.053942
M3 - Article
C2 - 17932120
AN - SCOPUS:38349116798
SN - 0022-2593
VL - 45
SP - 32
EP - 35
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 1
ER -