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Autism
Data on autism described by researchers at RIKEN
November 6th, 2009
According to a study from Wako, Japan, "The paired box 6 (PAX6) is a transcription factor expressed early in development, predominantly in the eye, brain and pancreas. Mutations in PAX6 are responsible for eye abnormalities including aniridia, and it is also known that some PAX6 mutations result in autism with incomplete penetrance." "We resequenced all the exons and flanking introns of PAX6 in 285 autistic patients in the Japanese, with the possibility that novel mutations may underlie autism. Fifteen different polymorphisms were identified: 13 are novel, and 2 were previously reported (rs667773 and rs3026393). Among the novel ones, there is one missense mutation that was found in a patient: 136C > G (Leu46Val) (single nucleotide polymorphism ID ''ss130452457'' is temporarily assigned). Leu46 is extremely conserved from fly to human, and we did not detect Val46 in 2120 nonautistic subjects. The autistic patient carrying this heterozygous mutation showed reduced vision, photophobia and eyelid ptosis, but no other ocular abnormality such as aniridia," wrote M. Maekawa and colleagues, RIKEN. The researchers concluded: "Our findings suggest the necessity of further studies on the causal relationship between PAX6 and autism." Maekawa and colleagues published their study in Neuroscience Letters (A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. Neuroscience Letters, 2009;462(3):267-271). For more information, contact M. Maekawa, RIKEN Brain Science Institute, Laboratory Molecular Psychiatry, 2-1 Hirosawa, Wako, Saitama 3510198, Japan. Publisher contact information for the journal Neuroscience Letters is: Elsevier Ireland Ltd., Elsevier House, Brookvale Plaza, East Park Shannon, Co. Clare, Ireland. Keywords: Japan, Wako, Aniridia, Autism, Developmental Disabilities, Eye Abnormalities, Gastroenterology, Neurology, Neuroscience, Pancreas, RIKEN. This article was prepared by NewsRx editors from staff and other reports. Copyright 2009, NewsRx.com.
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