HUM-MOLGEN DIAGnostics/Clinical Research

June, 10 1999
NF2 patients

Patients With Severe Phenotype of Neurofibromatosis Type 2 (NF2) - Call For Clinical Samples/Collaboration.

Our group is studying the genetic mechanisms that cause NF2. We are particularly interested in the question of why the severity of NF2 varies from person to person. Previous studies suggested that different types of mutations in the NF2 gene itself are related to disease severity. However, the type of germ-line mutation does not fully explain the clinical variation of NF2 phenotype. Several independent  lines of evidence suggest that other gene(s), as yet unknown, affect NF2 disease severity. These genes, since they would modify NF2 disease severity, are called "modifier gene(s)". Our hypothesis is that modifier gene(s) contribute to severe NF2, at least in some patients.

To test this hypothesis, we need to increase the number of patients available for the molecular genetic analysis. We would like to obtain samples (30 ml of peripheral blood or at least 200 microgram of high molecular weight DNA) from unrelated patients with severe or moderate NF2.
Because our hypothesis is that modifier genes affect severe NF2, patients with mild NF2 are not included.  Mild NF2 is defined as vestibular schwannomas only (without other tumors such as spinal/peripheral schwannomas and meningiomas of various locations), age of onset of symptoms over 25-30 years old, and slow tumor growth. Patients can be either sporadic or familial NF2 patients. For familial patients, where there is more than one patient in the family, we need a sample from only one patient in the family.

These samples could be sent to us by Federal Express/United Parcel Service, and we will cover the costs of shipment. However, before sending samples, we would like to be contacted by interested scientists/clinicians. <
Contact information is provided below.

Thank you in advance for your interest in our study!

Jan Dumanski, Dr.Med.Sc.
Associate Professor of Medical Molecular Genetics
Dept. of Molecular Medicine, Clinical Genetics Unit
Karolinska Hospital, CMM building L8:00,  S-17176 Stockholm, Sweden
phone: +46-8-517  72229 (office), or +46-8-517  73922 (lab)
fax: +46-8-517  73909