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

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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.

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.
...