2011 Fiscal Year Final Research Report
Pathophysilogy of brain dysfunction in Angelman and Prader-Willi syndrome.
| Project/Area Number |
21591306
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Nagoya City University (2011)
Hokkaido University (2009-2010) |
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Principal Investigator |
SAITOH Shinji 名古屋市立大学, 大学院・医学研究科, 教授 (00281824)
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| Co-Investigator(Kenkyū-buntansha) |
SHIRAISHI Hideaki 北海道大学, 北海道大学病院, 助教 (80374411)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 小児神経学 |
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| Research Abstract |
To uncover the pathophysiology underlying brain dysfunction in Angelman syndrome(AS) and Prader-Willi syndrome(PWS), we performed comprehensive genetic analyses on 168 patients with AS and 202 patients with PWS. We identified causative molecular abnormalities in 54 patients(32.1%) for AS and 82 patients(40.6%) for PWS. Furthermore, we identified one patients with a SLC9A6 mutation 2 patients with submicroscopic chromosomal rearrangements in AS, and 22 patients with submicroscopic chromosomal rearrangements in PWS. These underlying molecular abnormalities should indicate common pathway to cause brain dysfunction in AS and in PWS.
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Research Products
(26 results)
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[Journal Article] Comparison of three methods for localizing interictal epileptiform discharges with magnetoencephalography2011
Author(s)
Shiraishi H, Ahlfors SP, Stufflebeam SM, Knake S, Larsson PG, Hamalainen MS, Takano K, Okajima M, Hatanaka K, Saitoh S, Dale AM, Halgren E
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Journal Title
J Clin Neurophysiol
Volume: 28
Pages: 431-40
DOI
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[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011
Author(s)
Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J
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Journal Title
J Hum Genet
Volume: 56
Pages: 110-124
DOI
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[Journal Article] The applications of time-frequency analyses to ictal magnetoencephalography in neocortical epilepsy2010
Author(s)
Yagyu K, Takeuchi F, Shiraishi H, Nakane S, Sueda K, Asahina N, Kohsaka S, Umeoka S, Usui N, Baba K, Saitoh S
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Journal Title
Epilepsy Res
Volume: 90
Pages: 199-206
DOI
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[Journal Article] Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay2010
Author(s)
Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai SI, Ogata K, Kato M, Fukuda A, Matsumoto N
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Journal Title
Am J Hum Genet
Volume: 86
Pages: 881-891
DOI
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[Journal Article] Clinical Phenotype and Candidate Genes for the 5q31.3 Microdeletion Syndrome
Author(s)
Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S
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Journal Title
Am J Med Genet A
Volume: (in press)
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[Presentation] 5q31.3 microdeletion syndrome is a clinically discernible new syndrome characterized by severe neonatal hypotonia, feeding difficulties, respiratory distress, and severe developmental delay2011
Author(s)
HOSOKI K, OHTA T, NATSUME J, IMAI S, OKUMURA A, MATSUI T, HARADA N, SCAGLIA F, BACINO CA, NIIKAWA N, SAITOH S
Organizer
61th Annual Meeting of American Society of Human Genetics
Place of Presentation
Montreal, Canada
Year and Date
2011-10-14
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