Autism: highly heritable but not inherited

  title={Autism: highly heritable but not inherited},
  author={Arthur L. Beaudet},
  journal={Nature Medicine},
  • A. Beaudet
  • Published 1 May 2007
  • Biology, Psychology
  • Nature Medicine
The genetic basis of autism is beginning to come to light. De novo mutations in gene copy number may have a big role. 

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

A set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.

The complex genetics in autism spectrum disorders

Some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis are summarized.

Allan Award lecture: Rare patients leading to epigenetics and back to genetics.

  • A. Beaudet
  • Medicine
    American journal of human genetics
  • 2008

Regulation of neuronal migration, an emerging topic in autism spectrum disorders

A general background on neuronal migration during brain development is provided and recent advancements in the field connecting ASD and aberrant neuronal migration are discussed.

Genetic architecture in autism spectrum disorder.

Psychiatric genetics: progress amid controversy

More attention on unique families, rare variants, and on incorporating environment and the emerging knowledge of biological function and pathways into genetic analysis is warranted.

Autism: definition, neurobiology, screening, diagnosis.

Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder

Examination of rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses.

Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era

Findings from research studies in the genetics of ASD now support an important role for molecular diagnostics in the clinical genetics evaluation of ASDs and the challenge that remains is to determine the causal role of genetic variants identified through molecular testing.

Copy-number variations associated with neuropsychiatric conditions

Microarray experiments have revealed abundant copy-number variation — a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged — in the human population, making genes affected by copy- number variation good candidates for research into disease susceptibility.



Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

It is proposed that both Autism and Rett syndrome result from disruption of postnatal or experience-dependent synaptic plasticity, and at the phenotypic and pathogenic levels.

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

It is proposed that the twin data are compatible with oligogenic inheritance combined with a major, genetic or epigenetic, de novo component to the etiology of autism and that the Angelman gene (UBE3A), which encodes the E6‐AP ubiquitin ligase, is one of the contributing genes.

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.

Detection of large-scale variation in the human genome

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD, and may allow the delineation of new contiguous gene syndromes associated with ASD.

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

This analysis not only has confirmed the presence of several known autism risk regions but has also revealed additional previously unidentified loci, including 2q37, 5p15, 11q25, 16q22.3, 17p11.1, 18q23, 22q11.3 and Xp22.2–p 22.3.

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.

Value of a clinical morphology examination in autism.

It is postulate that the phenotypically normal subgroup of individuals with "idiopathic autism" is genetically different from the phenotypesically abnormal individuals and that differences in the sex ratio in different autism populations is one indicator of a population's genetic heterogeneity.