| 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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| 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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