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Article

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.

Journal of child neurology - 1 Mar 2012

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21960672
DOI: 10.1177/0883073811420296

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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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.PMID 21960672Read ↗

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Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.Semantic proximity Read ↗

Probable Genetic Association Between Lhermitte-Duclos Disease/Cowden Syndrome and Autism Spectrum Disorder: A Case Report and Literature ComprehensionSemantic proximity Read ↗

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