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

被引：92

作者：

Iwaki, A. ^{[1
]}

Kawano, Y. ^{[2
]}

Miura, S. ^{[1
,2
,3
]}

Shibata, H. ^{[1
]}

Matsuse, D. ^{[2
]}

Li, W.

Furuya, H. ^{[4
]}

Ohyagi, Y. ^{[2
]}

Taniwaki, T. ^{[2
,3
]}

Kira, J. ^{[2
]}

Fukumaki, Y. ^{[1
]}

机构：

[1] Kyushu Univ, Div Human Mol Genet, Res Ctr Genet Informat, Med Inst Bioregulat,Higashi Ku, Fukuoka 8128582, Japan

[2] Kyushu Univ, Grad Sch Med Sci, Dept Neurol, Neurol Inst, Fukuoka 812, Japan

[3] Kurume Univ, Sch Med, Div Respirol Neurol & Rheumatol, Dept Med, Fukuoka, Japan

[4] Natl Omuta Hosp, Dept Neurol, Neuromuscular Ctr, Fukuoka, Japan

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 01期

关键词：

D O I：

10.1136/jmg.2007.053942

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：32 / 35

页数：4

共 10 条

[1] Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency [J].

Cosma, MP ;

Pepe, S ;

Parenti, G ;

Settembre, C ;

Annunziata, I ;

Wade-Martins, R ;

Di Domenico, C ;

Di Natale, P ;

Mankad, A ;

Cox, B ;

Uziel, G ;

Mancini, GMS ;

Zammarchi, E ;

Donati, MA ;

Kleijer, WJ ;

Filocamo, M ;

Carrozzo, R ;

Carella, M ;

Ballabio, A .

HUMAN MUTATION, 2004, 23 (06) :576-581

[2] Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus [J].

Hara, K ;

Fukushima, T ;

Suzuki, T ;

Shimohata, T ;

Oyake, M ;

Ishiguro, H ;

Hirota, K ;

Miyashita, A ;

Kuwano, R ;

Kurisaki, H ;

Yomono, H ;

Goto, J ;

Kanazawa, I ;

Tsuji, S .

NEUROLOGY, 2004, 62 (04) :648-651

[3] Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter:: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant [J].

Knight, MA ;

Kennerson, ML ;

Anney, RJ ;

Matsuura, T ;

Nicholson, GA ;

Salimi-Tari, P ;

Gardner, RJM ;

Storey, E ;

Forrest, SM .

NEUROBIOLOGY OF DISEASE, 2003, 13 (02) :147-157

[4] Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes [J].

Lupski, JR ;

Stankiewicz, P .

PLOS GENETICS, 2005, 1 (06) :627-633

[5] Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor [J].

Matsumoto, M ;

Nakagawa, T ;

Inoue, T ;

Nagata, E ;

Tanaka, K ;

Takano, H ;

Minowa, O ;

Kuno, J ;

Sakakibara, S ;

Yamada, M ;

Yoneshima, H ;

Miyawaki, A ;

Fukuuchi, Y ;

Furuichi, T ;

Okano, H ;

Mikoshiba, K ;

Noda, T .

NATURE, 1996, 379 (6561) :168-171

[6] The contactin 4 gene locus at 3p26 is a candidate gene of SCA16 [J].

Miura, S. ;

Shibata, H. ;

Furuya, H. ;

Ohyagi, Y. ;

Osoegawa, M. ;

Miyoshi, Y. ;

Matsunaga, H. ;

Shibata, A. ;

Matsumoto, N. ;

Iwaki, A. ;

Taniwaki, T. ;

Kikuchi, H. ;

Kira, J. ;

Fukumaki, Y. .

NEUROLOGY, 2006, 67 (07) :1236-1241

[7] A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1 [J].

Miyoshi, Y ;

Yamada, T ;

Tanimura, M ;

Taniwaki, T ;

Arakawa, K ;

Ohyagi, Y ;

Furuya, H ;

Yamamoto, K ;

Sakai, K ;

Sasazuki, T ;

Kira, J .

NEUROLOGY, 2001, 57 (01) :96-100

[8] Motor discoordination in mutant mice heterozygous for the type 1 inositol 1,4,5-trisphosphate receptor [J].

Ogura, H ;

Matsumoto, M ;

Mikoshiba, K .

BEHAVIOURAL BRAIN RESEARCH, 2001, 122 (02) :215-219

[9] A new autosomal dominant pure cerebellar ataxia [J].

Storey, E ;

Gardner, RJM ;

Knight, MA ;

Kennerson, ML ;

Tuck, RR ;

Forrest, SM ;

Nicholson, GA .

NEUROLOGY, 2001, 57 (10) :1913-1915

[10] Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans [J].

van de Leemput, Joyce ;

Chandran, Jayanth ;

Knight, Melanie A. ;

Holtzclaw, Lynne A. ;

Scholz, Sonja ;

Cookson, Mark R. ;

Houlden, Henry ;

Gwinn-Hardy, Katrina ;

Fung, Hon-Chung ;

Lin, Xian ;

Hernandez, Dena ;

Simon-Sanchez, Javier ;

Wood, Nick W. ;

Giunti, Paola ;

Rafferty, Ian ;

Hardy, John ;

Storey, Elsdon ;

Gardner, R. J. McKinlay ;

Forrest, Susan M. ;

Fisher, Elizabeth M. C. ;

Russell, James T. ;

Cai, Huaibin ;

Singleton, Andrew B. .

PLOS GENETICS, 2007, 3 (06) :1076-1082

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