Clinical genetic phenotyping of Autism Spectrum Disorders

自闭症谱系障碍的临床遗传表型

• 批准号: nhmrc : 566759
• 负责人: Prof Ingrid Scheffer
• 金额: $ 38.82万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2009
• 资助国家: 澳大利亚
• 起止时间: 2009-01-01 至 2011-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/clinical-genetic-phenotyping-spectrum-disorders/80717
• 关键词: Clinical; genetic; phenotyping; Autism; Spectrum

Individuals with autism spectrum disorders (ASD) have difficulty with communication, social interaction and intellectual disability. The cause is generally not known although most cases have a genetic basis involving multiple genes and possibly environmental factors. We will study families of children with ASD and carefully characterize features related to ASD in family members. This will help us to understand how ASD is inherited and serve as the basis for the discovery of autism genes.

自闭症谱系障碍（ASD）患者在沟通、社交和智力残疾方面存在困难。虽然大多数病例都有涉及多个基因和可能的环境因素的遗传基础，但其原因通常尚不清楚。我们将研究ASD儿童的家庭，并仔细描述家庭成员中与ASD相关的特征。这将有助于我们了解ASD是如何遗传的，并作为发现自闭症基因的基础。