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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Emma’s Story

In the words of her mother, Melissa: This story is about my now 4 year old daughter Emma.  When she was about a year we had been noticing things didn’t come so easy for her.  She wasn’t as far developmentally as she should have been.  So we started at home therapy twice a week. Developmental […]

December 1, 2012 · Admin Andrew · No Comments
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Troy’s Story

In the words of his mother, Erica: So it’s a long story but it’s ours.  Thanks for reading and providing an outlet for other parents like us to post our struggle and ultimately our happy ending. At my 20 week ultrasound appointment the nurse was measuring my baby and asked me if I was sure […]

December 1, 2012 · PTENLife · 2 Comments
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Lifetime Cancer Risks in Individuals with Germline PTEN Mutations – NEW SCREENING RECOMMENDATIONS

SEE TABLE 4 WITH NEW SCREENING RECOMMENDATIONS  

February 6, 2012 · PTENLife · 5 Comments
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Mutation in PTEN Gene Can Cause Cancer and Autoimmune disease

http://www.sciencedaily.com/releases/1999/09/990927065349.htm

December 9, 2011 · PTENLife · One Comment
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PTEN Hamartoma Tumor Syndrome by Dr Charis Eng

http://www.ncbi.nlm.nih.gov/books/NBK1488/

November 11, 2011 · PTENLife · No Comments
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A Mutant Form of PTEN Linked to Autism

http://www.ncbi.nlm.nih.gov/pubmed/20718038

November 11, 2011 · PTENLife · No 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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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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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 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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Briana’s Story

In the words of her mother, Kathleen: ”Briana was born by C-section on March 27, 2007 in Seattle, Washington at the University. She weighed 8lbs 02oz. Her head was large but nothing too alarming at the time. She did not open her eyes which at the time was fine. She did not eat much during […]

April 30, 2011 · PTENLife · No Comments
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Zack’s Story

In the words of his mother, Irene: “Zack was born at 37 1/2 weeks and weighting in at 8 lbs 7 oz. He had jaundice and the doctor was checking his sugar because he was big for an early baby. I was on bed rest for a month because I was going into early labor. […]

April 29, 2011 · PTENLife · 3 Comments
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Nathaniel’s Story

Nathaniel Age 2 In the words of his mother, Trish: “After a perfect pregnancy, we nearly lost our first child when he came into this world.  After 4 hours of hard pushing, as well as several unsuccessful attempts with the forceps and the vacuum extractor, Nathaniel started having trouble.  (Who WOULDN’T, after all that?!)  He […]

April 29, 2011 · PTENLife · 4 Comments
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