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
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 f...
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| Veröffentlicht in: | Journal of Child Neurology 2012-03, Vol.27 (3), p.392-397 |
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| container_title | Journal of Child Neurology |
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| creator | Conti, Sara Condò, Maria Posar, Annio Mari, Francesca Resta, Nicoletta Renieri, Alessandra Neri, Iria Patrizi, Annalisa Parmeggiani, Antonia |
| description | 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. |
| doi_str_mv | 10.1177/0883073811420296 |
| format | Article |
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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. 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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.</description><subject>Adolescent</subject><subject>Autistic Disorder - complications</subject><subject>Autistic Disorder - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Electroencephalography</subject><subject>Epilepsy - complications</subject><subject>Epilepsy - genetics</subject><subject>Family Health</subject><subject>Female</subject><subject>Hamartoma Syndrome, Multiple - complications</subject><subject>Hamartoma Syndrome, Multiple - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Mutation - genetics</subject><subject>PTEN Phosphohydrolase - genetics</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1u1DAYRS0EokNhzwp5R5Ea8E_iH3bVMLRIA4zKIJaRk3zpuErsYDtU80S8JslMYYEEK0u-557FdxF6TslrSqV8Q5TiRHJFac4I0-IBWlBJVKaY4g_RYo6zOT9BT2K8JYSoQpPH6IRRLYiQbIF-bnY-DjuTTARsXIO34KJ1-Mr3vvM3-GyzXX16hS_BAf44JpOsd_EAXozJxv4tXtsEwaQxAL6GHxbuDqnBy9l4DYMPCft2-thMZXAJf7Nph5f-rgGHv-xdE3wP50ddsjV-Z6MPDYTzg2c12A6GuH-KHrWmi_Ds_j1FX9-vtsurbP358sPyYp3VXOiU5UALXVfStFLnOShuaiNYq6tCcqY0M1pQWheGsKbKa9I2IEGoSvK6EZowzk_Ry6N3CP77CDGVvY01dJ1x4MdYaqYLIijJJ_LsvyQl8_mF1nJCyRGtg48xQFsOwfYm7CeonIcs_x5yqry4t49VD82fwu_lJiA7AtHcQHnrx-Cmu_xb-AsI-6Vv</recordid><startdate>201203</startdate><enddate>201203</enddate><creator>Conti, Sara</creator><creator>Condò, Maria</creator><creator>Posar, Annio</creator><creator>Mari, Francesca</creator><creator>Resta, Nicoletta</creator><creator>Renieri, Alessandra</creator><creator>Neri, Iria</creator><creator>Patrizi, Annalisa</creator><creator>Parmeggiani, Antonia</creator><general>SAGE Publications</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>201203</creationdate><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</title><author>Conti, Sara ; Condò, Maria ; Posar, Annio ; Mari, Francesca ; Resta, Nicoletta ; Renieri, Alessandra ; Neri, Iria ; Patrizi, Annalisa ; Parmeggiani, Antonia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-4e159cb7af7944e83aca62f9b5732892a9611c5a02db4c0fde7e68b73cd690233</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Autistic Disorder - complications</topic><topic>Autistic Disorder - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Electroencephalography</topic><topic>Epilepsy - complications</topic><topic>Epilepsy - genetics</topic><topic>Family Health</topic><topic>Female</topic><topic>Hamartoma Syndrome, Multiple - complications</topic><topic>Hamartoma Syndrome, Multiple - genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Mutation - genetics</topic><topic>PTEN Phosphohydrolase - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Conti, Sara</creatorcontrib><creatorcontrib>Condò, Maria</creatorcontrib><creatorcontrib>Posar, Annio</creatorcontrib><creatorcontrib>Mari, Francesca</creatorcontrib><creatorcontrib>Resta, Nicoletta</creatorcontrib><creatorcontrib>Renieri, Alessandra</creatorcontrib><creatorcontrib>Neri, Iria</creatorcontrib><creatorcontrib>Patrizi, Annalisa</creatorcontrib><creatorcontrib>Parmeggiani, Antonia</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of Child Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Conti, Sara</au><au>Condò, Maria</au><au>Posar, Annio</au><au>Mari, Francesca</au><au>Resta, Nicoletta</au><au>Renieri, Alessandra</au><au>Neri, Iria</au><au>Patrizi, Annalisa</au><au>Parmeggiani, Antonia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>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</atitle><jtitle>Journal of Child Neurology</jtitle><addtitle>J Child Neurol</addtitle><date>2012-03</date><risdate>2012</risdate><volume>27</volume><issue>3</issue><spage>392</spage><epage>397</epage><pages>392-397</pages><issn>0883-0738</issn><eissn>1708-8283</eissn><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.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>21960672</pmid><doi>10.1177/0883073811420296</doi><tpages>6</tpages></addata></record> |
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| subjects | Adolescent Autistic Disorder - complications Autistic Disorder - genetics Child Child, Preschool Electroencephalography Epilepsy - complications Epilepsy - genetics Family Health Female Hamartoma Syndrome, Multiple - complications Hamartoma Syndrome, Multiple - genetics Humans Infant Male Mutation - genetics PTEN Phosphohydrolase - genetics |
| 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 |
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