Literature DB >> 24709068

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Anand K Srivastava1, Charles E Schwartz2.   

Abstract

Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common developmental disorders present in humans. Combined, they affect between 3 and 5% of the population. Additionally, they can be found together in the same individual thereby complicating treatment. The causative factors (genes, epigenetic and environmental) are quite varied and likely interact so as to further complicate the assessment of an individual patient. Nonetheless, much valuable information has been gained by identifying candidate genes for ID or ASD. Understanding the etiology of either ID or ASD is of utmost importance for families. It allows a determination of the risk of recurrence, the possibility of other comorbidity medical problems, the molecular and cellular nature of the pathobiology and hopefully potential therapeutic approaches.
Copyright © 2014 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Autism spectrum disorders; Intellectual disability; Molecular pathways; Neurodevelopmental disorder; Synaptic plasticity

Mesh:

Substances:

Year:  2014        PMID: 24709068      PMCID: PMC4185273          DOI: 10.1016/j.neubiorev.2014.02.015

Source DB:  PubMed          Journal:  Neurosci Biobehav Rev        ISSN: 0149-7634            Impact factor:   8.989


  201 in total

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Journal:  Am J Hum Genet       Date:  2012-04-12       Impact factor: 11.025

3.  Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.

Authors:  Yan Kou; Catalina Betancur; Huilei Xu; Joseph D Buxbaum; Avi Ma'ayan
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4.  Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Authors:  B Budny; M Badura-Stronka; A Materna-Kiryluk; A Tzschach; M Raynaud; A Latos-Bielenska; H H Ropers
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Review 5.  The ubiquitin proteasome system in neuropathology.

Authors:  Norman L Lehman
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6.  Identifying autism loci and genes by tracing recent shared ancestry.

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Journal:  PLoS Biol       Date:  2011-01-04       Impact factor: 8.029

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  71 in total

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3.  Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

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Review 4.  Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations.

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5.  De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.

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Journal:  Hum Mol Genet       Date:  2019-09-01       Impact factor: 6.150

6.  Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

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8.  Intelligence, Functioning, and Related Factors in Children with Cerebral Palsy.

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9.  Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

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Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

10.  Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function.

Authors:  Thomas C Jaramillo; Haley E Speed; Zhong Xuan; Jeremy M Reimers; Christine Ochoa Escamilla; Travis P Weaver; Shunan Liu; Irina Filonova; Craig M Powell
Journal:  Autism Res       Date:  2016-08-05       Impact factor: 5.216

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