hi,can i please have information on the gene ptpn11,as i have just had phone confirmation and would like to know as much as possible before seeing the genetic team in june.jordan is 3 years old on 14th may and has had a four operations,bowel,extra fingers,tonsils and adnoids,kidney testing that required him to be sedated.he also has very poor feeding,chews and then removes foods.not swallowing,his weight is 13kg.he was able to gain 2 kg after his tonsils operation.to date he lives on toddler formular and that can be a trial,he becomes close to having to be hospitalised for dehydration problems.thank you all in advance,kate
Hi Kate, The Gene is PTPN11. It is one of the genes that tests positive for noonans. There are several others: KRAS, RAF1, and SOS1. Kras from what i am told is not as common. Not all persons that test for the noonans gene come up positive for any of the genes that relate to it. I think mainly because they are still finding other genes through research. Do not be surprised if that may be the case when your child is tested. My son came up positive for the PTPN11 which is the most common gene. I found this website for you if you need some info:
They have a research study at Harvard Medical for children that are suspected of having noonans. They do genetic testing if you need a resource. All you need to do is go to your childs pediatrician and have them draw blood. The results take about 4 weeks. Here is the site if you are interested:
I hope that helps!
I forgot to add with Harvard Medical Research you can call or email to see if you would like to be part of the research study. Part or all of the cost for the genetic testing may be paid for by them.
Here is the contact info:
Noonan Syndrome/PTPN11 Gene Mutation Studies
Investigators: Raju Kucherlapati, PhD, Amy Roberts, MD
Contact: Amy Roberts, MD - email@example.com or 617-525-5768
Institutions: Brigham and Women’s Hospital, Massachusetts General Hospital and Children’s Hospital Boston
This study examines genotype-phenotype correlations for individuals and families (children and adults) with Noonan syndrome and related disorders. Two groups will be examined: those that meet the diagnostic criteria for Noonan syndrome and those that do not quite meet the criteria but have a “Noonan-like” appearance or presentation. Participants in the study will have PTPN11 mutation analysis testing. In addition, a medical and family history will be taken and a physical exam completed. Coagulation studies, a renal ultrasound and an echocardiogram will be completed if they have not already been done by the referring physician. Results of all testing will be made available to the referring physician and study participant if so desired by the enrollee. Accommodations for participation can be made for patients unable to travel to Boston to be evaluated in person.
Contact Amy Roberts, MD (firstname.lastname@example.org, or 617-525-5768) for more information about study enrollment and inclusion criteria.