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Spectrum: Autism Research News

Tag: de novo mutations

September 2012

Genetics: Early seizures define Rett-like syndrome

by  /  28 September 2012

Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.

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August 2012

Genetics: Rare epilepsy syndromes share autism mutations

by  /  22 August 2012

Individuals with either of two rare forms of epilepsy have duplications or deletions that encompass genes implicated in autism and language impairment, according to a study published 27 June in Epilepsia.

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Genes and environment are two-way street in autism risk

by  /  21 August 2012

Genes and the environment each influence the role of the other in determining the risk of developing autism. Genetics can determine how susceptible one is to the environment, and environmental factors can influence gene expression and introduce mutations, says immunologist Janine LaSalle.

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Scientists uncover new risk gene for autism

by  /  2 August 2012

Several lines of converging evidence suggest that low-density lipoprotein receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.

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July 2012

Gene expression analysis identifies risk genes for autism

by  /  5 July 2012

Analyzing how mutations in people with autism affect gene expression in blood-derived cells could help researchers pinpoint harmful mutations, according to research published 21 July in The American Journal of Human Genetics.

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June 2012

Lack of DNA modification creates hotspots for mutations

by  /  28 June 2012

The absence of a chemical alteration called methylation on some stretches of DNA makes them especially prone to mutations, according to a paper published in PLoS Genetics in May.

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Genetics: Deletions in neurexin-1 linked to seizures

by  /  27 June 2012

Deletions in the second half of the autism-linked gene neurexin-1 are associated with seizures and large head size, according to a study published 23 May in the European Journal of Human Genetics.

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Focus on function may help unravel autism’s complex genetics

by ,  /  26 June 2012

To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.

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Genetics: Analysis identifies new autism candidate regions

by  /  19 June 2012

An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.

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May 2012

Genetics: Search for recessive mutations reveals autism genes

by  /  30 May 2012

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.

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