Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

@article{Betancur2011EtiologicalHI,
  title={Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting},
  author={Catalina Betancur},
  journal={Brain Research},
  year={2011},
  volume={1380},
  pages={42-77}
}
  • C. Betancur
  • Published 22 March 2011
  • Biology, Psychology
  • Brain Research
View on Elsevier
hal.inserm.fr
838 Citations
Highly Influential Citations
63
Background Citations
418
Methods Citations
25
Results Citations
15

Figures and Tables from this paper

838 Citations

Etiological heterogeneity in autism spectrum disorders: role of rare variants

The Genetic Basis of Autism Spectrum Disorder

The genetic evaluation of all patients with ASD is now required due to recent advances in knowledge regarding the genetic factors involved in the etiology of autism.

Copy number variants in autism spectrum disorders

Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes

Findings collectively provide compelling empirical data that the genetic basis of ASD is highly heterogeneous, with hundreds of genes capable of conferring varying degrees of risk, depending on their nature and the predisposing genetic alteration.

Genetic architecture in autism spectrum disorder.

Molecular aspects of autism spectrum disorders

Autism does not fit the criteria of known patterns of inheritance, and for the majority of patients polygenic model of inheritance with many interacting genes is the most probable.

Autism spectrum disorders: The quest for genetic syndromes

This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.

[Molecular aspects of autism spectrum disorders].

  • M. Lisik
  • Psychology, Biology
    Psychiatria polska
  • 2014
It is estimated that a specific genetic etiology can be determined in up to 20% of individuals with ASD, and for families where a specific etiology has been identified, the risk of recurrence in siblings generally depends on the etiologic diagnosis.

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

The syndromic versus nonsyndromic designation should ultimately be replaced by classification of ASD according to its genetic etiology, which will inform about the associated spectrum and penetrance of neurobehavioral and somatic manifestations.

Genetic risk in autism: new associations and clinical testing.

  • C. Freitag
  • Biology, Psychology
    Expert opinion on medical diagnostics
  • 2011
The article presents the replicated genetic risk factors for ASD and the clinical relevance of these findings focusing on rare copy number variations and single gene mutations and provides an algorithm for clinical genetic testing in individuals who are clinically diagnosed with ASD.
...

References

SHOWING 1-10 OF 591 REFERENCES

Functional impact of global rare copy number variation in autism spectrum disorders

The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

Phenomic determinants of genomic variation in autism spectrum disorders

The findings indicate increased prevalence of pCNVs in subjects with microcephaly and the relationship between parental ages at delivery and CNV load and pathogenicity was also explored.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Most of these CNVs (which contain genes involved in neurotransmission or in synapse formation and maintenance) are present in the 3 pathologic conditions (sch schizophrenia, autism, and mental retardation), supporting the existence of shared biologic pathways in these neurodevelopmental disorders.

Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes

E evaluation of the behaviour domain suggested that repetitive sensory and motor behaviours correlate with a low developmental profile rather than being specific to autism, and classification of co-morbid AD/ASD vs the classification of less affected bASD.

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Genetic analysis in thousands of patients and control subjects suggests that the PTCHD1 gene may be part of the Hedgehog signaling pathway, which is important in embryonic development, and suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability.

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

To pinpoint genes likely to contribute to ASD etiology, high density genotyping was performed in 912 multiplex families from the Autism Genetics Resource Exchange collection and contrasted results to those obtained for 1,488 healthy controls.

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.

Features of Autism in Rett Syndrome and Severe Mental Retardation

Controlling for developmental level and motor ability, girls with RS scored more highly than those with SMR on the Sensory and Relating subscales, and there were no group differences on the Body and Object use, Language and Social and Self-help subscales.

Essential versus complex autism: Definition of fundamental prognostic subtypes

It is found that by using two readily available tests, autism can be divided into two subgroups, “essential autism” and “complex autism,” with different outcomes and recurrence risks, and separate essential from complex autism should be the first diagnostic step for children with autism spectrum disorders.
...