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

Sara Conti, Maria Condò, Annio Posar, Francesca Mari, Nicoletta Resta, Alessandra Renieri, Iria Neri, Annalisa Patrizi, Antonia Parmeggiani

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)392-397
Number of pages6
JournalJournal of Child Neurology
Volume27
Issue number3
DOIs
Publication statusPublished - Mar 2012

Fingerprint

Multiple Hamartoma Syndrome
Megalencephaly
Autistic Disorder
Phosphoric Monoester Hydrolases
Epilepsy
Mutation
Genes
Palmoplantar Keratoderma
Skin
Partial Epilepsy
Tensins
Neoplasms

Keywords

  • autism
  • Cowden syndrome
  • epilepsy
  • macrocephaly
  • phosphatase and tensin homolog gene
  • PTEN

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

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. / Conti, Sara; Condò, Maria; Posar, Annio; Mari, Francesca; Resta, Nicoletta; Renieri, Alessandra; Neri, Iria; Patrizi, Annalisa; Parmeggiani, Antonia.

In: Journal of Child Neurology, Vol. 27, No. 3, 03.2012, p. 392-397.

Research output: Contribution to journalArticle

Conti, Sara ; Condò, Maria ; Posar, Annio ; Mari, Francesca ; Resta, Nicoletta ; Renieri, Alessandra ; Neri, Iria ; Patrizi, Annalisa ; Parmeggiani, Antonia. / 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. In: Journal of Child Neurology. 2012 ; Vol. 27, No. 3. pp. 392-397.
@article{2f885cb62eb54e2dbdc24cb5e1e2e9f0,
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.",
keywords = "autism, Cowden syndrome, epilepsy, macrocephaly, phosphatase and tensin homolog gene, PTEN",
author = "Sara Conti and Maria Cond{\`o} and Annio Posar and Francesca Mari and Nicoletta Resta and Alessandra Renieri and Iria Neri and Annalisa Patrizi and Antonia Parmeggiani",
year = "2012",
month = "3",
doi = "10.1177/0883073811420296",
language = "English",
volume = "27",
pages = "392--397",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "3",

}

TY - JOUR

T1 - Phosphatase and Tensin Homolog (PTEN) gene mutations and autism

T2 - Literature review and a case report of a patient with cowden syndrome, autistic disorder, and epilepsy

AU - Conti, Sara

AU - Condò, Maria

AU - Posar, Annio

AU - Mari, Francesca

AU - Resta, Nicoletta

AU - Renieri, Alessandra

AU - Neri, Iria

AU - Patrizi, Annalisa

AU - Parmeggiani, Antonia

PY - 2012/3

Y1 - 2012/3

N2 - 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.

AB - 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.

KW - autism

KW - Cowden syndrome

KW - epilepsy

KW - macrocephaly

KW - phosphatase and tensin homolog gene

KW - PTEN

UR - http://www.scopus.com/inward/record.url?scp=84858673050&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84858673050&partnerID=8YFLogxK

U2 - 10.1177/0883073811420296

DO - 10.1177/0883073811420296

M3 - Article

C2 - 21960672

AN - SCOPUS:84858673050

VL - 27

SP - 392

EP - 397

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 3

ER -