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Mademont-Soler I.,Hospital Clinic Of Barcelona | Peydro C.M.,Servei de Bioquimica I Genetica Molecular | Diaz A.S.,Servei de Bioquimica I Genetica Molecular
Salud(i)Ciencia | Year: 2010

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 Steinen myotonic dystrophy, which are caused by mutations in NF1, TSC1 and TSC2, and DMPK genes, respectively. All of them are monogenic 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. Copyrigth © Sociedad Iberoamericana de Información Científica (SIIC), 2010.

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