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Spectrum: Autism Research News

Tag: rare variants

June 2011

Diagnostic tests for autism may miss many girls

by  /  27 June 2011

The symptoms of Asperger syndrome look slightly different in girls than in boys, according to a new study. However, gender differences in autism are poorly understood, and the results are preliminary, say other researchers.

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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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Solving the complex causes of a multi-hit disorder

by ,  /  7 June 2011

What’s known about the genetics of autism supports the ‘snowflake’ hypothesis — that the molecular underpinnings of disease are essentially unique from individual to individual — says human geneticist Brett Abrahams.

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May 2011

Molecular mechanisms: Gene linked to autism and epilepsy

by  /  25 May 2011

Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.

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Molecular mechanisms: Autism candidate recycles neurotoxin

by  /  4 May 2011

An autism-associated gene variant of glyoxalase 1, or GLO1, leads to the buildup of a compound that is toxic to neurons, according to a study published 12 April in Autism Research.

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April 2011

Genetics: Autism inherited from healthy parents

by  /  29 April 2011

Two rare, unlikely and inherited mutations in the same gene may together have contributed to a case of autism, according to a study published 23 March in Molecular Psychiatry. The results suggest that the gene, DIAPH3, is a new candidate for autism risk.

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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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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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