Spontaneous mutations in key brain gene are a cause of autism, study concludes

Autism is a disorder of brain development which leads to difficulties with social interaction and communication. Disorders such as autism are often caused by genetic mutations, which can change the shape of protein molecules and stop them from working properly during brain development. In some individuals with autism, inherited genetic variants put them at risk. But research in recent years has shown that severe cases of autism can result from new mutations occurring in the sperm or egg these genetic variants are found in a child, but not in his or her parents, and are known as de novo mutations. Scientists have sequenced the DNA code of thousands of unrelated children with severe autism and found that a handful of genes are hit by independentde novo mutations in more than one child. One of the most interesting of these genes is TBR1, a key gene in brain development. Strong impact on protein function In their study, Pelagia Deriziotis and colleagues from the MPI s Language and Genetic
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