Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage

Journal of Human Genetics

Volumn 57, Issue 3, 2012, Pages 202-206

  Obayashi, Masato ^a   Ishikawa, Kinya ^a   Izumi, Yuishin ^b   Takahashi, Makoto ^a   Niimi, Yusuke ^a   Sato, Nozomu ^a   Onodera, Osamu ^c   Kaji, Ryuji ^b   Nishizawa, Masatoyo ^c   Mizusawa, Hidehiro ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKUSHIMA   (Japan)

^c NIIGATA UNIVERSITY   (Japan)

Author keywords

deletion mutant; ITPR1; Japanese; quantitative PCR; SCA15

Indexed keywords

INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR;

ADULT; ARTICLE; ATAXIA; DISEASE COURSE; EUROPE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR RECEPTOR TYPE1 GENE; JAPAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREVALENCE; SPINOCEREBELLAR ATAXIA TYPE 15; SPINOCEREBELLAR DEGENERATION;

GENE DELETION; GENE DOSAGE; GENE ORDER; HETEROZYGOTE; HUMANS; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; JAPAN; PREVALENCE; SPINOCEREBELLAR ATAXIAS;

EID: 84858952386     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.5     Document Type: Article

References (12)

1. Durr, A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 9, 885-894 (2010).
2. Wang, J. L., Yang, X., Xia, K., Hu, Z. M., Weng, L., Jin, X. et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain. 133, 3510-3518 (2010).
3. Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y. et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89, 121-130 (2011).
4. Hara, K., Shiga, A., Nozaki, H., Mitsui, J., Takahashi, Y., Ishiguro, H. et al. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology. 71, 547-551 (2008).
5. van de Leemput, J., Wavrant-De Vrieze, F., Rafferty, I., Bras, J. M., Giunti, P., Fisher, E. M. et al. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Mov. Disord. 25, 763-765 (2010).
6. Iwaki, A., Kawano, Y., Miura, S., Shibata, H., Matsuse, D., Li, W. et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J. Med. Genet. 45, 32-35 (2008).
7. van de Leemput, J., Chandran, J., Knight, M. A., Holtzclaw, L. A., Scholz, S., Cookson, M. R. et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 3, 1076-1082 (2007).
8. Di Gregorio, E., Orsi, L., Godani, M., Vaula, G., Jensen, S., Salmon, E. et al. Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15. Cerebellum. 9, 115-123 (2009).
9. Synofzik, M., Beetz, C., Bauer, C., Bonin, M., Sanchez-Ferrero, E., Schmitz-Hubsch, T. et al. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J. Med. Genet. 48, 407-412 (2011).
10. Ganesamoorthy, D., Bruno, D. L., Schoumans, J., Storey, E., Delatycki, M. B., Zhu, D. et al. Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin. Chem. 55, 1415-1418 (2009).
11. Novak, M. J., Sweeney, M. G., Li, A., Treacy, C., Chandrashekar, H. S., Giunti, P. et al. An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description. Mov. Disord. 25, 2176-2182 (2010).
12. Marelli, C., van de Leemput, J., Johnson, J. O., Tison, F., Thauvin-Robinet, C., Picard, F. et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch. Neurol. 68, 637-643 (2011).