Identification of causative gene in congenital cataract with cognitive deficits

2013 Fiscal Year Final Research Report

• Project/Area Number: 24791844
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Ophthalmology
• Research Institution: Kitasato University (2013); Shinshu University (2012)
• Principal Investigator: KISHIMOTO Yoko 北里大学, 医学(系)研究科(研究院), 助教 (60523074)
• Project Period (FY): 2012-04-01 – 2014-03-31
• Keywords: 先天性白内障 / 家族性白内障 / 遺伝・先天異常学

Research Abstract

Congenital cataracts are the most important cause of severe visual impairment in infants. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. We analyzed a family with congenital cataracts and identified MAF mutation by whole exome sequencing (WES). The family members showed other eye abnormalities. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions.

Research Products

• [Journal Article] Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing : a clinical report and review of literature (2014)
  • Author(s): Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T
  • Journal Title: Am J Med Genet A
  • Peer Reviewed
• [Journal Article] Availability of DMD mRNA transcripts analysis in a patient with dystrophinopathy having a nonsense mutation (2013)
  • Author(s): Narumi Y, Fueki N, Hayashi Y, Shiba N, Nishino I, Inaba Y, Kosho T, Fukushima Y, Nakamura A
  • Journal Title: Journal of neurology & translational neuroscience Volume: 1 Pages: 1005
  • Peer Reviewed
• [Presentation] 先天性白内障家系におけるMAF 遺伝子遺伝子新規変異の同定 (2013)
  • Author(s): 鳴海洋子, 仁科幸子, 時光元温, 青木洋子, 小崎里華, 涌井敬子, 村田敏規, 古庄知己, 福嶋義光
  • Organizer: 日本人類遺伝学会第58回大会
  • Place of Presentation: 仙台
  • Year and Date: 2013-11-21
• [Presentation] Missense mutation of MAF in a Japanese family with congenital cataract (2013)
  • Author(s): Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Kosho T, Murata T, Takada F, Fukushima Y
  • Organizer: Annual Meeting American Society of Human Genetics
  • Place of Presentation: 米国 ボストン
  • Year and Date: 2013-10-23
• [Presentation] AKT シグナル伝達経路異常によるMPPH 症候群の臨床像 (2013)
  • Author(s): 鳴海洋子, 平林伸一, 古庄知己, 涌井敬子, 福嶋義光
  • Place of Presentation: 広島
  • Year and Date: 2013-04-18