| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Outline of Final Research Achievements |
We performed Trio-whole exome sequencing in three Japanese patients with combined pituitary hormone deficiency (Patient 1: a 12-year-old girl; patient 2: a 15-year-old boy; patient 3: an 1-year-old boy) for finding de novo and/or recessive type mutations in the patients. We found four de novo mutations (CDK13, MYOD1, SPATA13, XYLT) in patient 1 and one de novo mutation (TUBGCP3) in patient 2. In addition, we found three recessive homozygous mutations (TSPAN2, YEATS2, SYNM) in patient 2, and nine homozygous mutations (PKN2, MAGI1, ROBO1, KHDC1L, CCDC91, HNF1A, CYP1A2, TTLL12, RP1-32I10.10) in patient 3. No compound heterozygous mutations have not been identified in all the patients. These candidate genes have not been expressed in human pituitary cDNA. Array CGH analysis identified a heterozygous microdeletion in 3p11.2 involving HTR1F in patient 1. This microdeletion was identified in phenotypically normal father. Thus,
The deletion could not be pathogenic.
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