2010 Fiscal Year Final Research Report
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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| Keywords | 小児内分泌学 / 下垂体 / 発生 |
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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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Research Products
(25 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
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
Peer Reviewed
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