Blog: PTEN Gene for Concerned Parents... There is so much to tell! Cameron is 3 years, 3 months old and he is a smart boy! Cam has been said to have PTEN Macrocephaly Autism: a mutation of his PTEN gene, which is from what I understand the tumor suppressor gene. To me, this means that without proper function of the gene, cells can grow quickly - both good cells and bad cells. http://ptenparents.blogspot.co.uk/. Last blog post: 02.2013
Mutations of the PTEN gene have long been linked with cancer. Recently, however, researchers at the Cleveland Clinic have found that PTEN mutations are found in a small subgroup (about of children who have autism.
Cowden's/ Bannayan Riliey Ruvalcaba syndrome. My husband and I discovered that our young son (now 34 months) had a PTEN gene mutation. He had undergone genetic testing to try to establish if there was a cause of his developmental delay, macrocephaly (large head) and autistic behaviour. http://hannahjanelee.wordpress.com/tag/cowden-syndrome/
An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy... CS has been rarely reported in association with a cortical malformation or epilepsy... These cases suggest that cortical dysplasia needs to be suspected when a CS patient presents with drug-resistant seizures. http://www.brainanddevelopment.com/article/S0387-7604(12)00070-8/abstract Image: http://commons.wikimedia.org/wiki/File:ElectroEncephalogram.png?uselang=en-gb
Dermoscopy of Cowden syndrome.. 'We describe 4 patients with known mutations in the PTEN gene (OMIM 158350) to illustrate the use of dermoscopy and the histologic appearance of palmar lesions in Cowden syndrome.' http://archderm.jamanetwork.com/article.aspx?articleid=711998
The government's new healthcare reform will require health insurance companies to cover vital services. However, one vital service to those with autism was left out. Please ask them to include autism services in the reform.
Cowden's syndrome/BRRS. Each PTEN gene mutation case is different. Nathaniel does not have autism, down-slanted eyes, or... He has two tiny skin-colored bumps on his fingers (acral keratoses), these would go unnoticed by most people... he had hundreds of polyps in his small intestine... I had inquired about seeking a genetics evaluation several times, but each time I was told that it was probably not necessary. http://ptenlife.com/nathaniels-story/