The genetic basis of non-syndromic intellectual disability: a reviewReportar como inadecuado




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Journal of Neurodevelopmental Disorders

, Volume 2, Issue 4, pp 182–209

First Online: 29 July 2010Received: 09 March 2010Accepted: 25 June 2010

Abstract

Intellectual disability ID, also referred to as mental retardation MR, is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect. However, where co-morbid features are absent, narrowing down a specific gene can only be done by ‘brute force’ using the latest molecular genetic techniques. Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID. We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins. Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID.

KeywordsIntellectual disability Non-syndromic Genetic basis Convergent pathways  Download fulltext PDF



Autor: Liana Kaufman - Muhammad Ayub - John B. Vincent

Fuente: https://link.springer.com/







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