Tag: de novo mutations

December 2018
microsopy of human sperm
News

Study suggests Rett syndrome doesn’t always arise spontaneously

by  /  13 December 2018

Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.

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Microscopic view of spermatozoa
News

Some autism mutations go undetected, new study suggests

by  /  5 December 2018

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

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November 2018
News

Some autism genes may be especially vulnerable to mutations

by  /  7 November 2018

A small number of autism genes are located in fragile regions of the genome — those prone to breaking when cells copy DNA.

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June 2018
Week of JuneJun
18th
2018
News / Spotted

New health handbook; evidence imbalance; social motivation and more

by  /  22 June 2018

The latest manual of international disease codes is out, a franchise claims to have an autism cure, and two reports diverge on the validity of the social-motivation hypothesis.

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May 2018
Boy examining string in the grass
News

Autism, developmental delay can have distinct genetic origins

by  /  11 May 2018

Mutations in certain genes contribute specifically to autism, and others only to developmental delay.

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April 2018
father and son standing on the beach during sunset
News

Some mutations tied to autism may be passed down from fathers

by  /  19 April 2018

Some children with autism inherit rare mutations in noncoding DNA from their unaffected fathers.

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March 2018
Opinion / Viewpoint

Explaining ‘resilience’ in autism may seed new therapies

by  /  27 March 2018

Some individuals who have autism mutations show no signs of the condition; understanding why may lead to treatments.

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Neurons from mice missing OTUD7A (right) have fewer spines than do those from controls (left).
News

Studies pinpoint key gene in region linked to autism

by  /  21 March 2018

A single gene, OTUD7A, may account for most of the features seen in people missing a segment of chromosome 15 known as 15q13.3.

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February 2018
child walking on stone path with parents' help
News

Genetics underscores importance of motor deficits in autism

by  /  28 February 2018

Spontaneous mutations that impair proteins may lead to motor problems in children with autism.

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Newly flagged genes for developmental conditions (triangles) cluster in networks with previously identified risk factors (circles).
News / Toolbox

New software mines data for autism risk genes

by  /  16 February 2018

An algorithm combs through genetic data to identify variants involved in autism and four other brain conditions.

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