Advances in understanding – genetic basis of intellectual disability

作者：Pietro Chiurazzi, Filomena Pirozzi · 发表于：F1000Research · 年份：2016 · DOI：10.12688/f1000research.7134.1 · 被引用次数：149 · 研究领域：Genetics and Neurodevelopmental Disorders、Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities

Intellectual disability is the most common developmental disorder characterized by a congenital limitation in intellectual functioning and adaptive behavior. It often co-occurs with other mental conditions like attention deficit/hyperactivity disorder and autism spectrum disorder, and can be part of a malformation syndrome that affects other organs. Considering the heterogeneity of its causes (environmental and genetic), its frequency worldwide varies greatly. This review focuses on known genes underlying (syndromic and non-syndromic) intellectual disability, it provides a succinct analysis of their Gene Ontology, and it suggests the use of transcriptional profiling for the prioritization of candidate genes.