Identification of causative gene in congenital cataract with cognitive deficits

认知缺陷先天性白内障致病基因的鉴定

• 批准号: 24791844
• 负责人: KISHIMOTO Yoko
• 金额: $ 2.75万
• 依托单位: Kitasato University (2013)Shinshu University (2012)
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2012
• 资助国家: 日本
• 起止时间: 2012-04-01 至 2014-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24791844/
• 关键词: 先天性白内障; 家族性白内障; 遺伝・先天異常学

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.

先天性白内障是婴儿严重视力障碍的最重要原因。由于遗传异质性，确定先天性白内障的遗传原因可能很困难。我们分析了一个先天性白内障家族，并通过全外显子组测序（WES）鉴定了MAF突变。家庭成员表现出其他眼部异常。MAF突变的先天性白内障在家族内表现为表型可变的白内障。对MAF突变患者的回顾支持MAF突变引起的先天性白内障可能伴有小角膜和/或虹膜缺损的观点。WES是检测遗传异质性疾病患者致病突变的有用工具。

项目成果

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

• DOI: 10.1002/ajmg.a.36433
• 发表时间: 2014-05
• 期刊: American Journal of Medical Genetics Part A
• 影响因子: 2
• 作者: Y. Narumi;S. Nishina;Motoharu Tokimitsu;Y. Aoki;R. Kosaki;K. Wakui;N. Azuma;T. Murata;F. Takada;Y. Fukushima;T. Kosho

Missense mutation of MAF in a Japanese family with congenital cataract

日本先天性白内障家系MAF错义突变

• 发表时间: 2013
• 作者: Narumi Y;Nishina S;Tokimitsu M;Aoki Y;Kosaki R;Kosho T;Murata T;Takada F;Fukushima Y
• 通讯作者: Fukushima Y

先天性白内障家系におけるMAF遺伝子新規変異の同定

先天性白内障家族 MAF 基因新突变的鉴定

• 发表时间: 2013
• 作者: 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;高田史男;福嶋義光
• 通讯作者: 福嶋義光

Availability of DMD mRNA transcripts analysis in a patient with dystrophinopathy having a nonsense mutation

对具有无义突变的肌营养不良症患者进行 DMD mRNA 转录本分析的可用性

• 发表时间: 2013
• 期刊: Journal of neurology & translational neuroscience
• 作者: Narumi Y;Fueki N;Hayashi Y;Shiba N;Nishino I;Inaba Y;Kosho T;Fukushima Y;Nakamura A
• 通讯作者: Nakamura A

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

先天性白内障家族 MAF 基因新突变的鉴定

• 发表时间: 2013
• 作者: 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
• 通讯作者: 福嶋義光