Molecular evolutionary genetics analysis and elucidation of pathogenic mechanism of GNAS related imprinting disease

2017 Fiscal Year Final Research Report

• Project/Area Number: 26461537
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Hamamatsu University School of Medicine (2016-2017); National Center for Child Health and Development (2014-2015)
• Principal Investigator: Sano Shinichiro 浜松医科大学, 医学部, 協定訪問共同研究員 (60535574)
• Co-Investigator(Kenkyū-buntansha): 鏡 雅代 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (70399484)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: 偽性副甲状腺機能低下症 / GNAS / インプリンティング

Outline of Final Research Achievements

We accumulated more than 80 clinical history of PHP patients and performed molecular analysis in 70 cases of them. During the research period, we published some papers as follows:
Sano S, et al., Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib. Endocr J 62(6), 523-529(2015); Nakamura A, Sano S, se al., Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b. J Clin Endcocrinol Metab 101(7), 2623-2627, (2016); Sano S, et al., Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?. J Hum Genet 61(8), 765-769, (2016); Sano S., et al., (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I J Endocr Soc, 2(1),9-23, (2018)

Free Research Field

小児内分泌