Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
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DOI：
10.1136/jmg.2007.053942
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发表时间：
2008-01-01
影响因子：
4
通讯作者：
Fukumaki, Y.
中科院分区：
文献类型：
--
作者：
Iwaki, A.;Kawano, Y.;Fukumaki, Y.
我们之前已经将常染色体显性脊髓小脑性共济失调（SCA） 16定位到3p26，与SCA15位点重叠。最近，在SCA15和另外两个家族中报道了ITPR1和邻近的SUMF1的部分缺失。在本研究中，我们通过实时定量聚合酶链反应（PCR）测定了这些基因的拷贝数，发现ITPR1外显子1-48的杂合缺失，但在SCA16中没有SUMF1。断点分析显示，缺失长度为313318 bp，端粒断点位于基因间区中间。我们的数据提供了ITPR1单倍不足单独导致SCA16和SCA15的证据。
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.