French scientists identify genetic mutations in autistic children (extract)

PARIS, France: French scientists have identified genetic mutations in a small number of children with autism which could provide insight into the biological basis of the disorder.
       They sequenced a gene called SHANK3 on chromosome 22 in more than 200 people with autism spectrum disorders (ASD) and found mutations in the gene in members of three families …
       "These mutations concern only a small number of individuals, but they shed light on one gene ... that is involved in autism spectrum disorders," Dr Thomas Bourgeron, of the Pasteur Institute in Paris, said in a report in the journal, Nature Genetics.
       In people with cognitive deficits and with autistic behaviour, a part of their chromosome 22 is often affected. That region contains the SHANK3 gene. In all three families identified in the study, the researchers found they had various types of mutations in the gene. Two brothers in one family had small deletions, while another child in a different family had significant deletions.
       A girl with a deletion of SHANK 3 in the third family suffered from autism while her brother, who had an additional copy of the gene, had a higher-functioning form of autism called Asperger's syndrome … 

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