title: PTEN mutation in a family with Cowden syndrome and autism.
abstract: We report on a mother and son with Cowden syndrome and a PTEN mutation. The boy also exhibits autistic behavior and mental retardation, while his mother has a normal intelligence and social interaction pattern. We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.
authors.affiliation: Center for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Goffin
authors.forename: L H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: E
authors.initials: E
authors.lastname: Bosgoed
authors.forename: A
authors.initials: A
authors.lastname: Swillen
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D002648:Child; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D018389:Codon, Nonsense; D025521:Tumor Suppressor Proteins; D004247:DNA; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human