Autosomal dominant mental retardation: a review

作者：Mademont Soler Irene^*; Morales Peydro Carme; Sanchez Diaz Aurora

来源：Salud i Ciencia, 2010, 17(6): 525-528.

• mental retardation
• neurofibromatosis 1
• tuberous sclerosis
• steinert myotonic dystrophy
• cryptic imbalances

Mental retardation is a frequent disorder related to multiple causes. Among the genetic ones, mental retardation is etiologically heterogeneous and usually linked to syndromic forms. There are still few known genes associated with this phenotype, although for some disorders they are well established. This is the case of neurofibromatosis 1, tuberous sclerosis, and Steinert myotonic dystrophy, which are caused by mutations in NF1, TSC1 and TSC2, and DMPK genes, respectively. All of them are mono genic disorders with an autosomal dominant mode of inheritance. Recent studies have elucidated the pathogenesis of these diseases, suggesting possible therapeutic targets. Another entity responsible for autosomal dominant mental retardation are cryptic imbalances, whose diagnosis is only possible at present with current molecular techniques. In this work we review mental retardation with an autosomal dominant mode of inheritance, with special emphasis on neurofibromatosis 1, tuberous sclerosis and Steinert myotonic dystrophy, and on cryptic imbalances.

• 出版日期2010-7