Systematic mutation screening and genome-wide copy number analysis of patients with delayed puberty and precocious puberty.
Project/Area Number |
15K19538
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Endocrinology
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Research Institution | National Center for Child Health and Development |
Principal Investigator |
Suzuki Erina 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 (60726785)
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Project Period (FY) |
2015-04-01 – 2017-03-31
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Project Status |
Completed (Fiscal Year 2016)
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Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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Keywords | 次世代シークエンサー / アレイCGH / 変異 / 染色体異常 / 遺伝子 / 疾患 |
Outline of Final Research Achievements |
We conducted next generation sequencing-based comprehensive screening of nucleotide-level mutations and array comparative genomic hybridization-based screening of genomic rearrangements for 218 samples obtained from patients with delayed puberty and 48 samples obtained from patients with precocious puberty,. As a result, we found (i) a novel inactivating SOX10 mutation in a patient with Kallmann syndrome accompanied by deafness and iris hypopigmentation; (ii) complex X chromosome rearrangements in two patients with ovarian dysfunction, and (iii) the first activating PROKR2 mutation in a patient with precocious puberty.
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Report
(3 results)
Research Products
(10 results)
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[Journal Article] Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.2017
Author(s)
Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T.
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Journal Title
Journal of Cellular and Molecular Medicine
Volume: -
Issue: 10
Pages: 2623-2626
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] NR0B1 frameshift mutation in a boy with idiopathic central precocious puberty.2016
Author(s)
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M.
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Journal Title
Sexual Development
Volume: 10
Pages: 205-209
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.2015
Author(s)
Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y.
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Journal Title
Hormone Research in Paediatrics
Volume: 84
Issue: 3
Pages: 212-216
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Lack of Skeletal Dysplasia in Patients with Missense Mutations and Upstream Deletion of SOX9.2015
Author(s)
Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, and Fukami M
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Journal Title
Molecular Genetics & Genomic Medicine
Volume: 3
Issue: 6
Pages: 550-557
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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