Investigating the pathogenic mechanism of mutations in IQSEC2 causing non-syndromic intellectual disability.

研究IQSEC2突变导致非综合征性智力障碍的致病机制。

• 批准号: nhmrc : 1006586
• 负责人: A/Pr Cheryl Shoubridge
• 金额: $ 29.94万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigating-pathogenic-mechanism-intellectual-disability/109195
• 关键词: Investigating; pathogenic; mechanism; mutations; IQSEC2

Intellectual disability is frequent in the population, as many as 1 in every 50 people in the world affected. Mutations in IQSEC2, an X-chromosome gene, cause intellectual disability. We will screen 1000 families with this disability for mutations in IQSEC2, building the picture of disease symptoms, contributing to informed genetic counselling. We will investigate functional impacts of these mutations in neuronal cultures, increasing our understanding of the causes of intellectual disability.

智力障碍在人群中很常见，世界上每 50 人中就有 1 人受到影响。 X 染色体基因 IQSEC2 的突变会导致智力障碍。我们将对 1000 个患有这种残疾的家庭进行 IQSEC2 突变筛查，绘制疾病症状图，为知情遗传咨询做出贡献。我们将研究这些突变对神经元培养物的功能影响，加深我们对智力障碍原因的理解。