Clinical and molecular investigation for new forms of Ehlers-Danlos syndrome

2015 Fiscal Year Final Research Report

• Project/Area Number: 25460405
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Shinshu University
• Principal Investigator: KOSHO Tomoki 信州大学, 学術研究院医学系(医学部附属病院), 准教授 (90276311)
• Co-Investigator(Kenkyū-buntansha): FUKUSHIMA Yoshimitsu 信州大学, 学術研究院医学系, 教授 (70273084) ; HATAMOCHI Atsushi 獨協医科大学, 医学部, 教授 (90172923) ; MATSUMOTO Naomichi 横浜市立大学, 医学研究科, 教授 (80325638) ; MIYAYE Noriko 横浜市立大学, 医学部, 准教授 (40523494) ; WAKUI Keiko 信州大学, 学術研究院医学系, 講師 (50324249)
• Co-Investigator(Renkei-kenkyūsha): MORISAKI Hiroko 国立循環器病研究センター研究所, 室長 (40311451) ; WATANABE Atsushi 日本医科大学, 医学部, 准教授 (10307952)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: エーラスダンロス症候群 / 新規病型 / 結合組織疾患 / 次世代シーケンス / 候補遺伝子解析 / 全エクソーム解析 / 国際情報交換

Outline of Final Research Achievements

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, the hallmarks of which are skin hyperextensibility, joint hypermobility, and tissue fragility involving the skin, ligaments, joints, blood vessels, and internal organs. It was classified into six major types, and additional forms of EDS have also been identified in association with molecular and biochemical abnormalities. However, we sometimes experience patients who cannot be categorized into any previous forms of EDS. In this study, we aimed to identify new forms of EDS through detailed and comprehensive clinical assessment and next-generation sequencing-based genetic screening. As a result, we have successfully identified several new forms of EDS, including a severe subtype of classical type EDS presenting with marked skin hyperextensibility and fragility as well as severe progressing kyphoscoliosis from infancy, which is caused by COL5A2 mutations.

Free Research Field

臨床遺伝学