Exome sequencing could help to identify the causes of intellectual disability in children such as Siebe.
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About 2% of children experience some form of intellectual disability. Many have disorders such as Down’s syndrome and fragile X syndrome, which are linked to known genetic abnormalities and so are easily diagnosed. Others have experienced environmental risk factors, such as fetal alcohol exposure, that rule out a simple genetic explanation. However, a large proportion of intellectual disability cases are thought to be the work of single, as-yet-unidentified mutations.
Scientists estimate that about 1,000 genes are involved in the function of the healthy brain. “There are so many genes that can go wrong and give you intellectual disability,” says André Reis, a medical geneticist at Erlangen University Hospital in Germany. Reis’s group, the German Mental Retardation Network, has already sequenced the exomes — the 1–2% of the genome that contains instructions for building proteins — of about 50 patients with severe intellectual disability.
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http://www.nature.com/news/gene-hunt-is-on-for-mental-disability-1.10463
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