title: Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.
abstract: Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical features. At present, 24 patients with phosphatase and tensin homolog gene mutation, autism, macrocephaly, and some clinical findings described in phosphatase and tensin homolog syndromes have been reported in the literature. We describe a 14-year-old boy with autistic disorder, focal epilepsy, severe and progressive macrocephaly, and multiple papular skin lesions and palmoplantar punctate keratoses, characteristic of Cowden syndrome. The boy has a de novo phosphatase and tensin homolog gene mutation. Our patient is the first case described to present a typical Cowden syndrome and autism associated with epilepsy.
authors.affiliation: Child Neurology and Psychiatry Unit, Department of Neurological Sciences, University of Bologna, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Conti
authors.forename: Maria
authors.initials: M
authors.lastname: Condò
authors.forename: Annio
authors.initials: A
authors.lastname: Posar
authors.forename: Francesca
authors.initials: F
authors.lastname: Mari
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Resta
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Iria
authors.initials: I
authors.lastname: Neri
authors.forename: Annalisa
authors.initials: A
authors.lastname: Patrizi
authors.forename: Antonia
authors.initials: A
authors.lastname: Parmeggiani
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D051059:PTEN Phosphohydrolase / Q000235:genetics*
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human