The relationship between heterotopic ossification and GNAS imprinting

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K21681
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics; Orthopaedic surgery
• Research Institution: Tokyo Medical and Dental University (2017); Tokyo Metropolitan Children's Medical Center (Department of Clinical Research) (2015-2016)
• Principal Investigator: MIYAI Kentaro 東京医科歯科大学, 大学院医歯学総合研究科, 非常勤講師 (00749004)
• Research Collaborator: KASHIMADA Kenichi 東京医科歯科大学, 大学院医歯学総合研究科, 講師 (80451938)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: GNAS / POH / DNAメチル化異常

Outline of Final Research Achievements

We investigated the genetic backgrounds of heterotopic ossification in patients with POH overlapped with PHPⅠa (two patients) or PPHP (one patient). The de novo mutations in GNAS gene were detected in all three patients. RT-PCR method and SNP analyses showed that one mutation(POH/PHPⅠa) was on the maternal allele and the other two mutations were on the paternal allele. DNA methylation abnormalities were not detected. These data suggested that GNAS mutation on the maternal allele could cause heterotopic ossification.

Free Research Field

小児科学　内分泌学