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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

Journal article
Authors Joseph D Buxbaum
Guiqing Cai
Pauline Chaste
Gudrun Nygren
Juliet Goldsmith
Jennifer Reichert
Henrik Anckarsäter
Maria Råstam
Christopher J Smith
Jeremy M Silverman
Eric Hollander
Marion Leboyer
Christopher Gillberg
Alain Verloes
Catalina Betancur
Published in American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Volume 144B
Issue 4
Pages 484-491
ISSN 1552-4841
Publication year 2007
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 484-491
Language en
Keywords Abnormalities, Multiple, Genetics, Adolescent, Adult, Amino Acid Sequence, Asparagine, Genetics, Aspartic Acid, Genetics, Autistic Disorder, Complications, Genetics, Child, Child, Preschool, Craniofacial Abnormalities, Complications, Genetics, DNA Mutational Analysis, Exons, Genetics, Female, Genetic Testing, Humans, Introns, Genetics, Male, Molecular Sequence Data, Mutation, Genetics, PTEN Phosphohydrolase, Chemistry, Genetics, Syndrome
Subject categories Psychiatry


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. 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. 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.

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