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Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
- Source :
-
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2007 Jun 05; Vol. 144B (4), pp. 484-91. - Publication Year :
- 2007
-
Abstract
- 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.<br /> ((c) 2007 Wiley-Liss, Inc.)
- Subjects :
- Abnormalities, Multiple genetics
Adolescent
Adult
Amino Acid Sequence
Asparagine genetics
Aspartic Acid genetics
Child
Child, Preschool
DNA Mutational Analysis
Exons genetics
Female
Humans
Introns genetics
Male
Molecular Sequence Data
PTEN Phosphohydrolase chemistry
Syndrome
Autistic Disorder complications
Autistic Disorder genetics
Craniofacial Abnormalities complications
Craniofacial Abnormalities genetics
Genetic Testing
Mutation genetics
PTEN Phosphohydrolase genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4841
- Volume :
- 144B
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 17427195
- Full Text :
- https://doi.org/10.1002/ajmg.b.30493