Genetics of autism spectrum disorder

@article{Klauck2006GeneticsOA,
  title={Genetics of autism spectrum disorder},
  author={Sabine M Klauck},
  journal={European Journal of Human Genetics},
  year={2006},
  volume={14},
  pages={714-720}
}
  • S. Klauck
  • Published 2006
  • Biology, Medicine
  • European Journal of Human Genetics
Autism is a highly heritable complex neurodevelopmental disorder characterized by distinct impairments of cognitive function in the field of social interaction and speech development. Different approaches have been undertaken worldwide to identify susceptibility loci or genes for autism spectrum disorders. No clear conclusions can be made today about genetic loci involved in these disorders. The review will focus on relevant results from the last decade of research with emphasis on whole genome… Expand
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References

SHOWING 1-10 OF 90 REFERENCES
The Autism Genome Project
TLDR
The AGP intends to move the field of autism clinical management forward by answering questions about the causal mechanisms underlying the pathophysiology of autism, so that therapeutic targets for drug treatments, and ultimately, a newborn screening diagnostic that would allow for early intervention, can begin to be developed. Expand
Chromosomal Anomalies in Individuals with Autism
TLDR
This work focuses on the alternative approach of ‘positional cloning’ through chromosomal aberrations in individuals with autism, which offers a unique opportunity, since only the genes in the breakpoint regions are candidate genes. Expand
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. TheseExpand
An autosomal genomic screen for autism.
TLDR
The strongest multipoint results were for regions on chromosomes 13 and 7, and the highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 under the recessive model. Expand
An autosomal genomic screen for autism. Collaborative linkage study of autism.
TLDR
The first stage of a two-stage genomic screen for autism was carried out on individuals affected with autism from 75 families ascertained through an affected sib-pair, with the strongest multipoint results for regions on chromosomes 13 and 7. Expand
Evidence for sex-specific risk alleles in autism spectrum disorder.
TLDR
The results suggest that sexual dichotomy is an important factor in the genetics of autism; the same strategy can be used to explore this possibility in other complex disorders that exhibit significant sex biases. Expand
Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands
TLDR
These findings suggest that mutations in these two genes are infrequent in autism, and the function of neuroligin as a trigger for synapse formation would suggest that such mutations would likely result in some form of pathological manifestation. Expand
Deletion of Chromosome 2 q37 and Autism: A Distinct Subtype?
TLDR
It is proposed that deletion of the distal portion of the long arm of chromosome 2 (2q37) may be associated with some cases of autism and with a distinct phenotype and increased awareness of the dysmorphic features associated with 2q37 deletions may aid in the molecular genetic analysis of this chromosome anomaly. Expand
Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.
TLDR
The increased scores in the restricted sample, together with evidence for heterogeneity in the entire sample, indicate that therestricted sample comprises a population that is more genetically homogeneous, which could therefore increase the likelihood of positional cloning of susceptibility loci. Expand
Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression
Autism is a pervasive developmental disorder with a strong genetic component. While candidate regions of the genome have been identified, location of genes conferring susceptibility to autism hasExpand
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