Whole exome sequencing in moyamoya disease
Project/Area Number |
26461549
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
|
Research Institution | Yokohama City University |
Principal Investigator |
|
Project Period (FY) |
2014-04-01 – 2017-03-31
|
Project Status |
Completed (Fiscal Year 2016)
|
Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2015: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2014: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
|
Keywords | もやもや病 / エキソーム解析 / 全エキソーム解析 / RNF213 |
Outline of Final Research Achievements |
Moyamoya disease is a cerebrovascular disease characterized by progressive occlusion of the terminal portion of the carotid arteries and their branches, bilaterally. The p.R4810K variant in RNF213 gene is known to be associated with moyamoya disease, but it is assumed that there may be other genetic factors contributing its onset. We performed whole exome sequencing on 65 pedigrees with moyamoya disease, searching for the mutated gene in this cohort. Two patients had pathogenic mutation in genes associated with specific syndromes, in which moyamoya disease had not been known as their clinical symptom. We found that p.R4810K variant in RNF213 gene is significantly associated with not only moyamoya disease but also unilateral moyamoya disease, akin-moyamoya disease, and moyamoya-like disease in which different portion of carotid arteries are stenotic/occlusive.
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Report
(4 results)
Research Products
(37 results)
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[Journal Article] Biallelic mutations in MYPN, encoding Myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy2017
Author(s)
Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N
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Journal Title
American Journal of Human Genetics
Volume: 100
Issue: 1
Pages: 169-178
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy2017
Author(s)
Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
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Journal Title
American Journal of Human Genetics
Volume: 99
Issue: 4
Pages: 950-961
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.2017
Author(s)
Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A.
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Journal Title
EMBOJ
Volume: 36
Issue: 9
Pages: 1227-1242
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.2017
Author(s)
Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.
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Journal Title
J Hum Genet.
Volume: 印刷中
Issue: 8
Pages: 741-746
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome2017
Author(s)
Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
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Journal Title
Human Mutation
Volume: 印刷中
Issue: 6
Pages: 637-648
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.2017
Author(s)
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.
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Journal Title
Clinical Genetics
Volume: -
Issue: 2
Pages: 180-187
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder2017
Author(s)
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N
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Journal Title
Journal of Human Genetics
Volume: 62
Issue: 5
Pages: 525-529
DOI
NAID
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016
Author(s)
Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
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Journal Title
Am J Hum Genet
Volume: 98
Pages: 615-626
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.2016
Author(s)
Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A. and Matsumoto N.
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Journal Title
Scientific Reports
Volume: 6
Issue: 1
Pages: 30072-30072
DOI
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Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016
Author(s)
Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
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Journal Title
Am J Med Genet A
Volume: 170
Issue: 10
Pages: 2662-2670
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.2016
Author(s)
Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N.
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Journal Title
Ann Clin Transl Neurol.
Volume: 24
Issue: 5
Pages: 356-65
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach.2015
Author(s)
Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
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Journal Title
J Hum Genet
Volume: 1
Issue: 4
Pages: 124-124
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015
Author(s)
Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
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Journal Title
Am J Hum Genet
Volume: 97(4)
Issue: 4
Pages: 555-566
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.2015
Author(s)
Ohba, C., K. Haginoya, H. Osaka, K. Kubota, A. Ishiyama, T. Hiraide, H. Komaki, M. Sasaki, S. Miyatake, M. Nakashima, Y. Tsurusaki, N. Miyake, F. Tanaka, H. Saitsu, and N. Matsumoto
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Journal Title
J Hum Genet
Volume: 60
Issue: 12
Pages: 739-42
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015
Author(s)
Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
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Journal Title
JAMA Neurology
Volume: 72
Issue: 7
Pages: 797-805
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.2015
Author(s)
Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
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Journal Title
Sci Rep
Volume: 5
Issue: 1
Pages: 15199-15199
DOI
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Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy2014
Author(s)
Miyatake S, Koshimizu E, Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
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Journal Title
Clin Genet
Volume: 87(4)
Issue: 4
Pages: 395-397
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate-myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel2014
Author(s)
Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
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Journal Title
Hum Mol Genet
Volume: 24(3)
Issue: 3
Pages: 637-648
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014
Author(s)
Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
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Journal Title
Nat Commun
Volume: 5
Issue: 1
Pages: 4011-4011
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2014
Author(s)
Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
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Journal Title
Neuromuscul Disord
Volume: 24(7)
Issue: 7
Pages: 642-647
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2014
Author(s)
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
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Journal Title
Sci Rep
Volume: 4
Issue: 1
Pages: 7132-7132
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Presentation] Broadening of ANKRD11-related syndrome2016
Author(s)
Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akira Ohtake, and Naomichi Matsumoto
Organizer
The13th International Congress og Human Genetics
Place of Presentation
Kyoto International Conference Center(京都府京都市)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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[Presentation] Detecting copy number variations by analyzing whole exome sequencing data using the eXome Hidden Markov Model.2015
Author(s)
Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
Organizer
American Society of Human Genetics 65th Annual Meeting
Place of Presentation
Baltimore, USA
Year and Date
2015-10-09
Related Report
Int'l Joint Research
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[Presentation] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies2014
Author(s)
Satoko Miyatake, Hitoshi Osaka, Masaaki Shiina, Masayuki Sasaki, Jun-ichi Takanashi, Kazuhiro Haginoya, Takahito Wada, Masafumi Morimoto, Naoki Ando, Yoji Ikuta, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Kazuhiro Ogata, Naomichi Matsumoto, and Hirotomo Saitsu
Organizer
American Society Of Human Genetics 64th Annual Meeting
Place of Presentation
SanDiego, USA
Year and Date
2014-10-20
Related Report
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