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Spectrum: Autism Research News

Tag: rare variants

April 2011

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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March 2011

Prenatal tests for autism mutations pose ethical dilemmas

by  /  31 March 2011

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.

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Genetics: Cell communication pathway linked to autism

by  /  16 March 2011

Mutations in a gene that organizes synapses — the junctions between neurons — may increase the risk of autism, according to a study published in February in Autism Research. The study bolsters evidence linking a pathway involved in cell-to-cell communication to autism.

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February 2011

Matthew State: Bridging the gap between bench and bedside

by  /  24 February 2011

Matthew State is both a dedicated clinician and a world-class geneticist, but his diplomatic style is a relic of his former adventures in politics.

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Genetics: Study reexamines role of 16p11.2 in autism

by  /  23 February 2011

Duplication or deletion of 16p11.2 — a much-studied chromosomal region with a strong association with autism — is present in 0.76 percent of people with the disorder, according to a meta-analysis published February in Genetics in Medicine.

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Genetics: Centrosome gene linked to autism

by  /  18 February 2011

Rare mutations in TSGA14, a component of the centrosome — which is required for the generation of new neurons — may be associated with autism, according to a study published in January in the American Journal of Medical Genetics.

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Families hint at diverse effects of chromosome 16p deletion

by  /  14 February 2011

Two new studies of families carrying glitches on a region of chromosome 16, which has been strongly associated with autism, reveal the wide range of effects caused by the variant and narrow the list of possible culprit genes.

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January 2011

Genetics: Rare mutation found in gene linked to autism

by  /  31 January 2011

Researchers have identified a rare genetic variant linked to autism in DLX1, a gene that regulates the growth of neurons, they reported in December in the American Journal of Medical Genetics.

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Risk of autism spikes for children of older men

by  /  28 January 2011

A man’s risk of fathering a child with autism begins to rise at age 30 and significantly increases after age 50, according to a report published online 30 November in Molecular Psychiatry.

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December 2010

Genetics: Gene interaction map reveals disease response

by  /  21 December 2010

The pattern of interactions among different genes in yeast cells changes in response to disease-like conditions, in this case a DNA-damaging agent, according to a study published 3 December in Science. Mapping epistasis — how various cellular factors work together — is key to understanding complex disorders, such as autism.

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