Genetics of Recessive Cognitive Disorders
2015; Linguagem: Inglês
10.1002/9780470015902.a0025835
AutoresKimia Kahrizi, Hossein Najmabadi,
Tópico(s)Genomics and Rare Diseases
ResumoAbstract Intellectual disability (ID) is one of the most heterogeneous disorders, presenting two to three times more than any other disability. Recent estimates indicate that there are about 2000–3000 genes underlying ID. The X‐linked genes have been studied most extensively, contributing to approximately 10% of cases. However, autosomal genes make up the vast majority of genes, which is responsible for monogenic forms of ID. In Western populations, it appears that autosomal dominant (AD) disorders are more common than autosomal recessive (AR) disorders; however, when we move to the Middle East, this ratio shifts significantly and AR disorders are major players in the hereditary disease burden there. There are prevalent genes contributing to non‐syndromic autosomal recessive intellectual disability (NSARID) including TUSC3 , ELP2 and MAN1B1 ; however, there is a paucity of ARID studies in many countries, particularly in the Middle East. Although many ARID genes have been identified in the last few years with advances in next‐generation sequencing, many of the genes responsible for ARID have not yet been identified, but it is expected that the novel genes will be determined in future. Key Concepts Neuro‐developmental disorders arise from central nervous system (CNS) dysfunction, leading to gradual and progressive cognition or movement impairment. ID is one of the most studied and explored conditions amongst neurodegenerative disorders The majority of genes responsible for ID has an autosomal mode of inheritance
Referência(s)