The role of imprinting control region in regulating imprinting status in 15q11-13 among patients with Prader-Willi syndrome

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860898
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: MATSUBARA KEIKO 独立行政法人国立成育医療研究センター, その他部局等, 研究員 (90542952)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: Prader-Willi症候群 / インプリンティング異常症 / ＤＮＡメチル化 / エピ変異

Outline of Final Research Achievements

We performed analysis of endocrinological information and molecular genetic tests on patients with Prader-Willi syndrome (PWS). For molecular analyses, we also utilized samples taken from patients with Angelman syndrome (AS).
First, we performed insulin tolerant test to clarify the feature of hypothalamus, pituitary and adrenal gland axis of PWS patients. Although basal and peak values of ACTH and cortisol were within normal range, cortisol showed prolonged secretion pattern. Secondly, we performed genome wide methylation analysis to reveal DNA methylation pattern among the PWS patients with epimutation or atypical tiny deletion involving PWS-SRO (shortest region of overlapping) and AS-SRO in imprinting control region, and revealed detailed pattern of DNA methylation in 15q11-13 of these patients.Lastly, we detected one patient with Temple syndrome among patients without any of known causes resulting in PWS phenotype.

Free Research Field

臨床遺伝、先天異常症、小児内分泌、インプリンティング異常症