Data from Mount Sinai School of Medicine advance knowledge in autism genetics
2007 JUL 9 -- New investigation results, "Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly," are detailed in a study published in American Journal of Medical Genetics Part B. "Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly," researchers in the United States report. "In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and macrocephaly (defined as >or=2 SD above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions, as well as the promoter region. Dosage analysis of PTEN was carried out using multiplex ligation-dependent probe amplification (MLPA). No partial or whole gene deletions were observed. We identified a de novo missense mutation (D326N) in a highly conserved amino acid in a 5-year-old boy with autism, mental retardation, language delay, extreme macrocephaly (+9.6 SD) and polydactyly of both feet. Polydactyly has previously been described in two patients with Lhermitte-Duclos disease and CS and is thus likely to be a rare sign of PTEN mutations. Our findings suggest that PTEN mutations are a relatively infrequent cause of ASDs with macrocephaly," wrote J.D. Buxbaum and colleagues, Mount Sinai School of Medicine. The researchers concluded: "Screening of PTEN mutations is warranted in patients with autism and pronounced macrocephaly, even in the absence of other features of PTEN-related tumor syndromes." Buxbaum and colleagues published their study in American Journal of Medical Genetics Part B (Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. American Journal of Medical Genetics Part B, 2007;144(4):484-91). For additional information, contact J.D. Buxbaum, Laboratory of Molecular Neuropsychiatry, Mount Sinai School of Medicine, New York, New York USA. Publisher contact information for the American Journal of Medical Genetics Part B is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, New York, Autism Genetics, Autism, Craniosynostoses, Developmental Disabilities, Genetics, Neurology. This article was prepared by Mental Health Weekly Digest editors from staff and other reports. Copyright 2007, Mental Health Weekly Digest via NewsRx.com.
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