In 2009 my son was diagnosed with a rare genetic disorder called PTEN Deletion. PTEN Deletion occurs when a person is missing a single copy of the PTEN gene. When a child is conceived he inherits DNA from his mother and father so generally most people have two copies of each gene. A person with a PTEN Deletion is missing a single copy of the PTEN gene located on the 10th chromosome. This condition could be passed on from a parent with a PTEN Deletion or it could be a random mutation.
Some of characteristics of individuals with PTEN deletions include: High Birth Weight and Size, Low Muscle Tone, Drooling, Macrocephaly (large head), and Developmental Delays. Patients may have verying degrees of cognitive problems. People with PTEN deletions possibly have an increased risk of developing polyps and cancer.
The PTEN gene creates a protein that regulates growth and aids in cognitive functioning. Those missing a copy of the PTEN gene only create half of what is typically produced. This is why those with PTEN Deletions are born very large. The lack of this growth regulating protein makes the prospects of cancer and polyps very dangerous. While the body naturally works to surpress these growths, those with deletions do not have enough protein and growths will spread rapidly. It is not known if patients with PTEN Deletions will continue to grow or if the body will find ways to compensate for the missing protein. It is also not known how or to what extent the deletion will impact cognitive functioning.
In 2009 a geneticist told us to ignore all of the information available on PTEN mutations. She instructed us not to read any articles as it would only cause us to worry about problems our son would not face. With these instructions we left the hospital with no community, support group, plan of action, or idea of what to expect. We were given only a diagnosis. Since then I've realized that there are similarities between deletions and mutations. Also there is an active community of people with PTEN mutations online who can provide support and share experiences. Our new geneticist feels there is not enough data to determine if PTEN deletions are at less risk the those with PTEN mutations.
Our new plan of action is to proceed as if our son had a mutation. We will do blood tests once a year to check for internal bleeding and polyps. Also he will be evaluated for ASD (Autistic Spectrum Disorder), which has a strong correlation with PTEN mutations. Our son is very social and does not fit the classical discription of autism. However, he does struggle with communication, and hums a lot which is a self stimmulating (stimming) behavior.
When my son was diagnosed with PTEN Deletion we were informed that only 7 or 8 cases had ever been diagnosed. Due to its rarity it is somewhat impossible to know the implications of a PTEN Deletion.
I have no medical expertise. This information is simply what I've learned being a mother and talking to doctors. It is possible I've misunderstood or misinterpreted some of the information. If you have any corrections, or more information please let me know and I will update this blog.
At the recommendation a wonderful geneticist, Dr. John Carey, M.D., M.P.H. (Primary Childrens Hospital - Salt Lake City), I've started this blog to share our experiences. I hope that it might be helpful for others who find themselves with this rare diagnosis. If you or your loved one has a PTEN Deletion I'd love to hear from you. It would be wonderful to speak to others with this condition.
