Dutch website providing support to people with a PTEN mutation

Myrna Zandvoort-Zee and other volunteers have launched a website to support families and people with a PTEN mutation living in Holland and Belgium. http://pten.nl Several Dutch PTEN specialists have assisted Myrna in providing the site with insightful content.   Although written in Dutch, non-Dutch readers can view the content by using one of the translate […]

December 1, 2012 · PTENLife · No Comments
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Simple Quiz Speeds Diagnosis of Autism in Infants

http://online.wsj.com/article/SB10001424052748703367004576289360947431574.html?mod=djemalertNEWS

May 1, 2011 · PTENLife · 2 Comments
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Benign Growths and Lesions

Dr Eng mentioned that in general certain benign growths and lesions should not be removed in patients with a PTEN mutation as they tend to regrow even larger (examples were lesions of the mouth, face and hands that have not been seen to become malignant).  Of course, these should be checked and followed by a doctor.  […]

May 1, 2011 · PTENLife · No Comments
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Dural Arteriovenous Malformation in a Child with BRRS

http://www.ajnr.org/cgi/reprint/27/9/1927.pdf

May 1, 2011 · PTENLife · No Comments
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Lhermitte Duclos Disease and Multiple Hamartoma Syndrome

Lhermitte Duclos Disease is a rare tumor of the cerebellum that grows slowly. http://www.associatedcontent.com/article/2774918/lhermitteduclos_disease_pg2.html?cat=5

May 1, 2011 · PTENLife · No Comments
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MIT Research: Multiple Genes Implicated in Autism in Mice

Massachusetts Institute of Technology looked at how mutations in PTEN and serotonin transporter genes together produce greater autism symptoms in mice. http://web.mit.edu/newsoffice/2009/autism-gene-0209.html

May 1, 2011 · PTENLife · No Comments
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Mutation of the KILLIN gene is responsible for Cowden like symptoms in people without PTEN mutation

http://www.cleveland.com/medical/index.ssf/2010/12/cleveland_clinic_researchers_h.html

May 1, 2011 · PTENLife · No Comments
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Researchers Create Scoring System for PTEN Mutation Testing

Led by Dr Charis Eng,  the study established more stringent diagnostic criteria as to who should undergo testing for PTEN mutation.  In addition, the study established that a higher diagnostic store correlates with lower PTEN proteins.  “ A higher diagnostic score correlates with lower PTEN protein, substantiating previous laboratory studies that show lower PTEN levels associate with […]

May 1, 2011 · PTENLife · No Comments
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Seaside Therapeutics is creating a new Autism drug treatment

Seaside Therapeutics Reports Positive Data from Phase 2 Study of STX209 in Autism Spectrum Disorders.  Study to Advance. http://www.seasidetherapeutics.com/sites/default/files/news_media-release_2010-09-09.pdf And reports advances in the treatment of Fragile X Syndrome. http://www.seasidetherapeutics.com/sites/default/files/Seaside_ACS_release_5_18_2011.pdf They have a pipeline summary of the drugs they are investigating for treatment of Autism and Fragile X. http://www.seasidetherapeutics.com/pipeline-overview

May 1, 2011 · PTENLife · No Comments
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Should Autistic Children be tested for the PTEN Mutation

http://www.associatedcontent.com/article/2991138/should_autistic_children_be_tested_pg2.html?cat=25

May 1, 2011 · PTENLife · No Comments
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The Dr Oz Show addresses the controversial topic of what causes autism

http://www.doctoroz.com/videos/what-causes-autism-pt-1?hs317=billboard_5

May 1, 2011 · PTENLife · No Comments
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The Genetics of PTEN Mutations, Symptoms, Diagnosis and Cancer Screening Protocols

Information including, what is a PTEN mutation, what are the clinical symptoms, how is it diagnosed, how is it inherited, reproductive options for people with the mutation wishing not to pass it on, and cancer screening protocols. http://www.chop.edu/service/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/pten-hamartoma-tumor-syndrome.html

May 1, 2011 · PTENLife · No Comments
Tags: , , , , ,  · Posted in: Autism, Macrocephaly, Medical, PTEN Life, PTEN Mutation, Screening

The Relationship between PTEN Mutation and Autism

With regard to the link between autism and PTEN mutation, I will do my best to explain my understanding. Current research indicates that about 20% of people with PTEN mutation have developmental delays and are on the autism spectrum, in varying degrees. Autism is a description of symptoms: communication delays, impaired social interaction and/or restricted and […]

May 1, 2011 · PTENLife · No Comments
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About Tommy

About Tommy ********************************************************************************* NEW CANCER SCREENING RECOMMENDATIONS FOR PATIENTS WITH PTEN MUTATION PUBLISHED 1/12 (SEE TABLE 4) BY THE AMERICAN ASSOCIATION FOR CANCER RESEARCH ********************************************************************************* Tommy Dabinett  is a sweet and happy 13-year old boy with a full head of black hair and big blue eyes.  When he was born in 2004 we were so happy to be […]

April 30, 2011 · PTENLife · 36 Comments
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