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Spectrum: Autism Research News

Tag: de novo mutations

September 2011

New mutations spike in offspring of older fathers

by  /  12 September 2011

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

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Chromosome 16 duplication raises risk of extreme thinness

by  /  1 September 2011

Individuals with a duplication of a chromosomal region associated with autism and intellectual disability are at higher risk for low birth weight, restricted eating leading to extreme thinness, and smaller-than-average head size.

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August 2011

Genetics: Spontaneous mutations play role in schizophrenia

by  /  30 August 2011

Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

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Attention deficit, autism share genetic risk factors

by  /  22 August 2011

Some of the same genetic risk factors may underlie both autism and attention deficit hyperactivity disorder, according to a study published 10 August in Science Translational Medicine.

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X-linked variants may up autism, schizophrenia risk

by  /  3 August 2011

The first study to sequence more than 100 genes on the X chromosome in people with autism or schizophrenia has turned up some promising leads.

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Studying autism genetics in special populations

by  /  2 August 2011

The study of any genetic disorder benefits from including the many diverse human populations in our world, and autism should be no different, says geneticist Christopher Walsh.

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July 2011

Experts critique statistics, conclusion of autism twin study

by  /  14 July 2011

A new study of twins proposes the controversial claim that environmental influences during early development are just as, if not more, important than genetics. But the findings are not substantially different from those of previous twin studies, however, and some experts are critical of the study’s statistics.

7 Comments
June 2011

Molecular mechanisms: SHANK3 mutants function at synapse

by  /  22 June 2011

Spontaneous and inherited mutations in SHANK3 both inhibit the protein’s role at synapses, the junctions between neurons, according to a study published 24 May in Molecular Psychiatry.

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Studies find high rate of rare new mutations in autism

by  /  8 June 2011

Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.

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May 2011

Genetics: Pathway links autism, intellectual disability

by  /  18 May 2011

Individuals with intellectual disability are more likely than controls to have harmful mutations in autism candidate genes, according to a study published 11 March in the American Journal of Human Genetics.

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