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Spectrum: Autism Research News

Tag: de novo mutations

November 2011

Molecular mechanisms: SHANK2 mutants alter synapses

by  /  30 November 2011

Three mutations in SHANK2, an autism-associated gene, each lead to abnormal synapses, the junctions between neurons, according to a study in Human Molecular Genetics.

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Wholesale genomes

by  /  22 November 2011

In October, the autism science and advocacy organization Autism Speaks announced its plans to sequence whole genomes of 10,000 children with the disorder and their family members over the next two years.

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‘Outlier’ genes expressed differently in people with autism

by  /  13 November 2011

Individuals who have autism show distinct patterns of gene expression in neurological pathways compared with their unaffected siblings, according to unpublished work presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

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October 2011

Later-born children at higher risk for autism

by  /  24 October 2011

In families that have more than one child with autism, the middle children, particularly those born second, have a higher risk of developing autism than other children in the family, according to a study published 19 October in PLoS One. In families that have only one child with autism, however, risk of the disorder rises with each additional birth, the study found.

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DNA helix with a highlighted area in pink.

Genetics: Rare mutations slightly more common in autism

by  /  5 October 2011

Duplications and deletions of genetic regions linked to autism are rare in individuals referred for genetic testing, but occur at a higher rate than in the general population.

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Clinical research: Parents share some autism traits

by  /  4 October 2011

Individuals who have multiple children with autism have more severe social and communication deficits than either controls or those who have only one child with autism.

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September 2011

Insights for autism from Charcot-Marie-Tooth disease

by  /  27 September 2011

Charcot-Marie-Tooth disease and autism are both associated with alterations in the number of copies of certain genetic regions, mutations in multiple candidate genes and with both inherited and spontaneous mutations, notes human geneticist James Lupski.

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Genetics: Exome study finds new autism-linked mutations

by  /  16 September 2011

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

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Autism exome study pinpoints mutations in brain genes

by  /  14 September 2011

Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

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Reference set for Prader-Willi, Angelman syndromes debuts

by  /  14 September 2011

Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.

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