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 repetitive behaviors. The underlying causes of autism are many, just like a person with a cold may be sick because of any number of viruses. Because a PTEN mutation manifests itself so differently in each individual, it is believed that mutations in related genes may determine the manifestation and severity of the syndrome in a particular person including whether that person has autism and the severity of the autistic symptoms. So one theory is that a person with PTEN gene mutation plus related gene mutation that by itself may or may not be significant (and a gene that is yet to be found) results in a person with PTEN mutation plus autism. That same gene mutation may also work with other developmental disorders such as Fragile X to make a person with that underlying mutation have more severe autism characteristics. Thus finding that gene might help autism patients with different underlying mutations. When we asked one doctor whether the drug currently being studied by Seaside Therapeutics for Fragile X patients might help PTEN mutation patients with autism, he explained that although the disorders in the general class of developmental problems such as Fragile X syndrome and BRRS differ in their underlying mechanisms, they likely overlap in terms of various signaling pathways at some point down the line (maybe where this second gene comes into play) and might make trials of an agent useful in one disorder worth a try in the other depending on the side effects and risk/benefits.

For persons with PTEN mutation and autism, researchers at the Cleveland Clinic informed us that developmental progress has been extremely varied and unpredictable.  Lucy

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

Meeting with Dr Charis Eng at the Cleveland Clinic

In the summer of 2010, we went to see Dr Charis Eng at the Cleveland Clinic. The National Institute of Health gave us her name when Tommy’s grandfather contacted them to see what else we could learn about Bannayan Riley Ruvalcaba Syndrome. Dr. Eng discovered the PTEN gene mutation responsible for Tommy’s syndrome. This was the first time that we were meeting with someone who had seen other patients with the same condition. Dr Eng explained to us that although there is no published information yet she believes Tommy’s lung, tonsil, and skin conditions are related to the mutation. Since a PTEN mutation causes an overgrowth of cells, she believes that Tommy’s sinus and airway passages might have thicker walls and therefore a thinner space for air and mucous to pass. Thus causing clogging and plugs. The passages that bring moisture to the skin are probably suffering the same problem. We raised with Dr Eng that Tommy has frequent bowel movements. She mentioned that she suspects patients with a PTEN mutation may have “lazy nerves” and it is difficult for them to coordinate the movements required for a full bowel movement.

April 30, 2011 · PTENLife · No Comments
Tags: , , , , ,  · Posted in: Congestion, Constipation, Lung Mucous Plugs, Medical, PTEN Life, PTEN Mutation, Respiratory Issues, Skin Rash, tonsillectomy