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脆性X综合征谱系:新进展与展望

The fragile X continuum: new advances and perspectives.

作者信息

Cornish K, Turk J, Hagerman R

机构信息

McGill Child Laboratory for Research and Education in Developmental Disorders, McGill University, Montréal, Canada.

出版信息

J Intellect Disabil Res. 2008 Jun;52(Pt 6):469-82. doi: 10.1111/j.1365-2788.2008.01056.x. Epub 2008 Apr 28.

Abstract

Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene-1. A substantial body of research across the disciplines of molecular genetics, child psychiatry and developmental neuroscience bears testament to a decade of exciting and innovative science that has advanced our knowledge about the fragile X 'signature' or influence across cognitive and social development. The core aims of this review are to first discuss fragile X syndrome and premutation involvement in the context of current advances that demonstrate the dynamic nature of the genotype on phenotypic outcomes. Second, to discuss the implications of these recent advances for the development of clinical and educational interventions and resource tools that target specific phenotypic 'signatures' within the fragile X continuum.

摘要

脆性X综合征是全球男性智力残疾最常见的遗传性病因,在女性中程度较轻。该疾病由X染色体上一个单一基因——脆性X智力低下基因-1的沉默所引起。分子遗传学、儿童精神病学和发育神经科学等学科的大量研究证明了十年来令人兴奋且具有创新性的科学进展,这些进展增进了我们对脆性X“特征”或其在认知和社会发展方面影响的认识。本综述的核心目标首先是在当前进展的背景下讨论脆性X综合征和前突变的影响,这些进展表明基因型对表型结果具有动态影响。其次,讨论这些最新进展对开发针对脆性X连续体中特定表型“特征”的临床和教育干预措施及资源工具的意义。

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