Molecular basis of congenital pituitary defect
| Project/Area Number |
20591213
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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 | Hokkaido University |
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Principal Investigator |
TAJIMA Toshihiro Hokkaido University, 大学院・医学研究科, 講師 (50333597)
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| Project Period (FY) |
2008 – 2010
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| Project Status |
Completed (Fiscal Year 2010)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2008: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 小児内分泌学 / 下垂体 / 発生 / CHD7 / 中枢性性腺機能低 / Septo-optic dysplasai / GLI2 / OTX2 / 複合型下垂体前葉ホルモン欠損 / 中枢性性腺機能低下症 / クロマチンリモデリン / 無眼球症 / 転写因子 |
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| Research Abstract |
We analyzed 35 patients of congenital pituitary anomalies accompanying with combined pituitary hormone deficiency. As results, we identified novel mutations of the OTX2 gene (p.S136sX178, p.K75fsX103) and one novel mutation (V101A) of the LHX4 gene.
OTX2 is a transcription factor necessary for ocular and forebrain development. This study indicates that the OTX2 gene mutation is a cause of CPHD and the clinical phenotypes of OTX2 mutations involved opthalamogical and central nervous anomalies.
LHX4, a LIM-homeodomain transcription factor, is required for development of the pituitary and nervous system. A novel missense mutation (V101A) was identified. In vitro transfection studies demonstrated that this mutant was loss-of-function. An early report suggested that a poorly developed sella turcica was a characteristic feature caused by a LHX4 mutation. However, our patient had a normally developed sella turcica. Therefore, a poorly developed sella turcica is not a universal feature of patients with LHX4 mutations.
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Report
(4 results)
Research Products
(52 results)
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[Journal Article] Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.2010
Author(s)
Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T.
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Journal Title
J Clin Endocrinol Metab 95
Pages: 756-764
Related Report
Peer Reviewed
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[Journal Article] Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.2010
Author(s)
Nakamura A, Shimizu C, Nagai S, Yoshida M, Aoki K, Kondo T, Miyoshi H, Wada N, Tajima T, Terauchi Y, Yoshioka N, Koike T
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Journal Title
Clin Endocrinol 72
Pages: 272-276
Related Report
Peer Reviewed
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[Presentation] CHRGE症候群の4例2010
Author(s)
中村明枝、石津桂、田島敏広
Organizer
第44回日本小児内分泌学会学術集会
Place of Presentation
大阪市中央会議堂(大阪府)
Year and Date
2010-10-08
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