Noonan Syndrome

Dear parents,

We are Paula and Nerea’s parents (identical twins), both of them present a non-hereditary gene mutation occurring in the amino acid position 282 within the gen PTPN11, which has been described as to be responsible for Noonan Syndrome (NS).

We obtained the diagnosis above-mentioned two years after Paula died due to a cardiac arrest during a diagnostic catheterization. At the time, doctors told us that our daughters could be affected by some kind of genetic condition to substantiate the unexpected reaction to induction of anaesthetic. Furthermore, when Nerea was aged three months also suffered a cardiac arrest when anesthetized for cardiac catheterization, fortunatel she recovered from nicely and nowadays she is fine.

In the light of the above, a genetic assessment, using the massive DNA sequencing technique on a sample of both Paula and Nerea´s blood, was carried out at the Ramón y Cajal hospital (Madrid), reaching the diagnosis of NS. However, the reaction to the anesthesia that either Paula or Nerea presented is not yet described in the scientific literature on NS.

On the basis of the different clinical features with which this genetic condition manifests itself, our aim is to collect as much data as posible from all the people affected by any kind of Rasopathy regardless of the affected gene.

Data collected in this questionnaire would be referred to Dr. Villamar (Molecular Genetics Service at Ramón y Cajal hospital), who carried out the genetic assessment of our doughters and will be responsible for evaluating all relevant information provided by all participants.

If you or any of your children is affected by this kind of genetic mutation, we kindly ask you to fill out the following form, and, in the case you want us to contact you, please leave us your e-mail account.

In addition to the foregoing, if you know someone who carry such mutation specifically in the amino acid position 282, Dr. Villamar would be interested in contact directly for a firsthand observation and learn more about the symtoms and clinical manifestations of the above.

We add you Dr. Villamar´s letter.

Dear parents,

We contact you to ask for your participation on a pilot study, that would be carried out at the Ramón y Cajal hospital, with the purpose of finding out whether or not there are certain parameters in patients with NS that can affect their clinical management.

If we achieve to collect enough data, a scientific investigation about the effects of anaesthesia in patients with NS and other RASopathies will be carried out at the Ramón y Cajal hospital.

The more participants involved, the more statistically significant the collected data would be. I would therefore ask for your kind participation.

In order to take part in the abovementioned study you just have to fill in the attached form, which is completely anonymous.

Yours sincerely,
Dr. Manuela Villamar
Genetics Department of Ramon y Cajal Hospital

If we get enough data, a scientific research about the effects of anaesthesia in Noonan Syndrome and other rasopaties will be performed at the Ramón y Cajal Hospital, furthermore, it would allow us to dispose of an updated database of the different problems related of Noonan Syndrome, among which we highlight those regarding the desirability or otherwise of administering the growth hormone, learnig difficulties, etc.

If you need further information about this form, please do not hesitate to contact us at rqrom@yahoo.es

T