Genetics of intellectual disability

Ropers, H Hilger

doi:10.1016/j.gde.2008.07.008

Cited by 200Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesDown syndrome and intellectual disability research

Genetics of intellectual disability

Ropers, H Hilger·2008·Current Opinion in Genetics & Development

DOI 10.1016/j.gde.2008.07.008

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Abstract

Early onset intellectual disability (ID) is one of the largest unsolved problems of health care. Yet, it has received very little public attention in the past because many health care professionals do not perceive it as a health condition but as a social or educational issue. In severe ID, cytogenetically visible chromosomal abnormalities like trisomy 21 continue to be common, but since the introduction of array CGH, it is becoming clear that submicroscopic deletions and duplications are equally frequent, yet previously overlooked causes of ID. Until recently, the search for gene defects causing ID has focused on the X-chromosome. So far, >80 genes have been implicated in X-linked ID, largely owing to coordinated efforts of international consortia, and mutations in these genes account for >50% of the families with this condition. Autosomal forms, either due to dominant de novo mutations or to recessive gene defects, are presumably (far) more common than X-linked ones, and their molecular elucidation is a new challenge for research in this field. As recently shown, autosomal recessive ID (ARID) is extremely heterogeneous, and common forms are unlikely to exist. Ongoing studies into the function of ID genes are shedding more light on the pathogenesis of this disorder, and there is reason to believe that at least some genetic forms of ID may be amenable to drug treatment.

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Genetic approaches have identified causes for more than 1,000 Mendelian and fewer non-Mendelian forms of neurodevelopmental disorders, including intellectual disability, ASD, epilepsy, and schizophrenia.
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [62]

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Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome
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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
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A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation
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X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
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A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
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Mapping translocation breakpoints by next-generation sequencingPreprint
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The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules
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α3Na+/K+-ATPase Is a Neuronal Receptor for Agrin
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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation
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The Role of Neuronal Complexes in Human X-Linked Brain Diseases
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The role of ARX in cortical development
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Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation
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Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism
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The diagnosis and frequency of X‐linked conditions in a cohort of moderately retarded males with affected brothers
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UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome
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‘Mental Retardation’ or ‘Intellectual Disability’: Time for a Conceptual Change
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Is Down Syndrome a Disappearing Birth Defect?
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Freud-1: A Neuronal Calcium-Regulated Repressor of the 5-HT1A Receptor Gene
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Metabotropic Glutamate Receptors and Fragile X Mental Retardation Protein: Partners in Translational Regulation at the Synapse
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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
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Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination
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Specific cleavage of agrin by neurotrypsin, a synaptic protease linked to mental retardation
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From microscopes to microarrays: dissecting recurrent chromosomal rearrangements
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CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
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Healthcare costs of intellectual disability in the Netherlands: a cost‐of‐illness perspective
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Prenatal and Postnatal Risk Factors for Mental Retardation among Children in Bangladesh
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Activity-Induced Synaptic Capture and Exocytosis of the Neuronal Serine Protease Neurotrypsin
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Effects of inbreeding on cognitive performance
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Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly
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Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening
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Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
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Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting
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Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation
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Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
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Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation
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Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome
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The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
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Transmembrane agrin regulates filopodia in rat hippocampal neurons in culture
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Signatures of adaptive evolution within human non-coding sequence
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Differential Repression by Freud-1/CC2D1A at a Polymorphic Site in the Dopamine-D2 Receptor Gene
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Clustering transmembrane-agrin induces filopodia-like processes on axons and dendrites
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Ultra-high resolution array painting facilitates breakpoint sequencing
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Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
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Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome
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Editorial Acknowledgements
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Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
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A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype
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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
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Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability
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5'-UTR SNP of FGF13 causes translational defect and intellectual disability
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Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient
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Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis
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Curr Opin Genet Dev
Ropers, H. (2008) · MPG.PuRe (Max Planck Society)
Self-citation
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review
Mir, Y. R., & Kuchay, R. A. H. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105821 · Cited by 23 · see citing works
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 365 · see citing works
Self-citation
Identification of three novel genes for autosomal recessive intellectual disability and molecular characterization of the causative defects
Moheb, L. A. (2012) · Universitätsbibliothek der FU Berlin Hochschulschriftenstelle u. Dokumentenserver · doi:10.17169/refubium-15444 · Cited by 1 · see citing works
Genetics of recessive cognitive disorders
Musante, L., & Ropers, H. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.09.008 · Cited by 133 · see citing works
Self-citation

Authors: Ropers, H. H.
Affiliations: Max Planck Society (DE)
Corresponding author: Ropers, H Hilger
ORCID: Ropers, H Hilger
Venue: Current Opinion in Genetics & Development
Publisher: Elsevier BV
Published: 2008-06
Volume: 18
Issue: 3
Pages: 241-250
ISSN: 0959-437X (ISSN-L)
DOI: 10.1016/j.gde.2008.07.008
OpenAlex: W2040030455
Cited by: 199
References: 136
Citations by year: 2026: 3 · 2025: 3 · 2024: 8 · 2023: 7 · 2022: 12 · 2021: 7 · 2020: 8 · 2019: 6 · 2018: 10 · 2017: 15 · 2016: 12 · 2015: 13 · 2014: 17 · 2013: 15 · 2012: 23
FWCI: 1.25
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Current Opinion in Genetics & Development (publishedVersion)
PubMed (publishedVersion)
Max Planck Institute for Plasma Physics (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords: intellectual disability, genetic causes of intellectual disability, X-linked intellectual disability, autosomal recessive intellectual disability, Down syndrome, array comparative genomic hybridization
MeSH terms: Animals, Chromosome Aberrations, Genes, Humans, Genetic Linkage, Intellectual Disability, X-Linked Intellectual Disability, Mental Retardation, X-Linked, Chromosomes, Human, X

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