Genomic background of pseudohypoparathyroidism 1B

Research Project

Project/Area Number	16K19630
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Pediatrics
Research Institution	Chiba University
Principal Investigator	takatani rieko 千葉大学, 医学部附属病院, 特任助教 (20772370)
Project Period (FY)	2016-04-01 – 2018-03-31
Project Status	Completed (Fiscal Year 2017)
Budget Amount *help	¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000) Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000) Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords	偽性副甲状腺機能低下症1B / インプリンティング異常症 / 偽性副甲状腺機能低下症 / 片親性ダイソミー / 偽性副甲状腺機能低下症１B
Outline of Final Research Achievements	1)I did genomic study of 27 pseudohypoparathyroidism 1B (PHP1B) patients with broad methylation changes at GNAS locus. 2) I found 2 patients had paternal uniparental disomy at long arm of 20 chromosome out of 27 sporadic PHP1B patients. 3) Regarding 23 patients, Idid whole genome sequence at STX-GNAS locus. I did not see new findings. 4) Regarding 1patient, Idid SNP-CGH array study. I did not see loss of heterozygosity.