Clinical and molecular genetic study of elucidation of a cause of Moebius syndrome

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K09607
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kawasaki University of Medical Welfare
• Principal Investigator: MASUNO Mitsuo 川崎医療福祉大学, 医療福祉学部, 教授 (00389024)
• Co-Investigator(Kenkyū-buntansha): 黒澤 健司 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 部門長 (20277031)
• Co-Investigator(Renkei-kenkyūsha): AIDA Noriko 神奈川県立こども医療センター, 放射線科, 部長 (20586292) ; MATSUI Kiyoshi 神奈川県立こども医療センター, 総合診療科, 部長 (30601984)
• Research Collaborator: FUJII Yuta 神奈川県立こども医療センター, 放射線科, 医長
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: メビウス症候群 / ゲノム解析 / 病因

Outline of Final Research Achievements

1. Identification of an incomplete form of Moebius syndrome: We present 4 patients with an incomplete form of Moebius syndrome, characterized by congenital bilateral facial nerve paralysis and other cranial nerves involvements without abducens nerve paralysis.　Cranial MRI of the patients showed hypoplasia of the brainstem and facial nerves but normal abducens nerves.
2. Genomic analyses on the patients with Moebius syndrome: Whole exome sequencing analyses were performed on 9 patients with typical Moebius syndrome, 2 patients with an incomplete form of Moebius syndrome, and 5 patients with atypical Moebius syndrome. No candidate gene responsible for Moebius syndrome has been identified. Medical exome sequencing analyses performed on 2 patients with atypical Moebius syndrome revealed a de novo known TUBB3 mutation and a de novo novel CHD7 mutation, respectively.

Free Research Field

小児科