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Spectrum: Autism Research News

Tag: de novo mutations

May 2011

Family sequencing study boosts two-hit model of autism

by  /  15 May 2011

A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.

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April 2011

Genetics: Identical twins not so similar

by  /  20 April 2011

Identical twins can be genetically different, which could explain why they do not always share disorders such as schizophrenia or autism, according to a study published in March in PLoS One.

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Genetics: Small chromosome changes are rare, inherited

by  /  13 April 2011

Small duplications or deletions of DNA regions — called micro-copy number variations — may not lead directly to disease, but could raise the risk of autism when combined with other mutations, according to a study published in March in the American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

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Genetics: Deep sequencing reveals rare mutations

by  /  5 April 2011

Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.

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January 2011

Genetics: Spontaneous mutations lead to mental retardation

by  /  3 January 2011

Spontaneous mutations that change a single DNA base account for a large proportion of cases of unexplained mental retardation, according to a study published in the December Nature Genetics.

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November 2010

Common themes link etiology, treatment in autism

by  /  15 November 2010

Three themes — heterogeneity, phenotype, and trajectory — are beginning to emerge in diverse lines of inquiry into autism, according to speakers at a satellite symposium of the Society for Neuroscience annual meeting in San Diego.

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October 2010

Genetics: Database of 2,000 families with autism debuts

by  /  29 October 2010

The Simons Simplex Collection (SSC), a database of genetic and clinical information from families that include one child with autism, has gathered data from more than 2,000 different families, researchers report in the October issue of Neuron.

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September 2010

Genetics: De novo mutation rate higher in autism

by  /  30 September 2010

Spontaneous harmful mutations are more frequent in individuals with autism and schizophrenia, according to two studies published in September.

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August 2010

Social factors may drive the spike in autism cases

by  /  27 August 2010

Changes in diagnostic practices, more active neighborhood networks, and an increase in the number of older parents may all contribute to the massive rates of autism in California, says a group of social scientists. But the numbers still don’t add up.

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June 2010

Autism marked by copy number changes in coding regions

by  /  11 June 2010

People with autism harbor more copy number variants (CNVs) — deletions or duplications of large chunks of DNA — compared with controls, but only in the protein-coding regions of the genome, researchers reported Wednesday in Nature. The study also pinpointed more than 100 new risk genes for autism.

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