Résumé
D’importants travaux ont été réalisés ces dernières années pour identifier les causes génétiques des retards mentaux. Les décryptage des bases moléculaires de ces retards mentaux, dont près de la moitié ont une origine génétique, permet le développement d’outils de diagnostic. Or, poser un diagnostic précis peut permettre d’affiner la prise en charge et de préciser le pronostic. Par ailleurs, ces outils moléculaires permettront d’aider le conseil génétique qui vise à déterminer les risques de récurrence dans la famille. Sur le plan fondamental, la connaissance des bases moléculaires de ces retards mentaux d’origine génétique permet d’aborder la physiopathologie de ces affections, ce qui constitue la première étape avant la conception de stratégies thérapeutiques.
Abstract
Along these last past years, significant works focused on the molecular basis of mental retardation. Nearly half of mental retardation syndromes have a genetic origin and the description of molecular alterations in these syndromes led to the development of diagnostic tools. Indeed, having a precise diagnosis allow to improve patient care and to refine the prognosis. Moreover, these molecular tools will help the geneticist to evaluate the recurrence risk in the family in the genetic counseling step. From a fundamental point of view, the knowledge of molecular basis of mental retardation will help to understand their physiopathology which constitutes the first step before therapeutic strategies.
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Saugier-Veber, P. Les retards mentaux d’origine génétique. Psychiatr Sci Hum Neurosci 1, 11–19 (2003). https://doi.org/10.1007/BF03006793
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DOI: https://doi.org/10.1007/BF03006793