Research project NF1 modifying genes
Information for patients

Institute for Human Genetics, University of Ulm, Working group of PD Dr. Dieter Kaufmann

for patients

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Lab PD Dr.

German Version

Modifying genes and NF1

Symptoms of NF1 show a high variability between NF1 patients. For example, on the one hand the number of dermal neurofibromas increases with age, but on the other hand there are NF1 patients of the same age with drastically different number of dermal neurofibromas.

Patients with spinal Neurofibromatosis have neurofibromas distributed along the spinal chord but rarely have dermal neurofibromas.The effects of modifying genes are thought to be a cause for this variability.

The hypothesis is that the NF1 gene determines if a person has a NF1 but another gene determines how many neurofibromas this person will develop. Our research project, funded by the DFG, aims at identifying such a modifying gene.

We need your help

Our project can only succeed if certain NF1 patients will help us.

How can you help?

You can help us, if you belong to one of the following three groups of patients:

  • Patients with spinal Neurofibromatosis: patients with this variant of NF have multiple neurofibromas along the spinal chord but few or no dermal neurofibromas, café au lait spots or other symptoms of classical NF1.
  • NF1 Patients who fulfill all of the following three criteria
    • you have extremely few dermal neurofibromas
    • you have inherited the NF1 from one parent
    • you are aged 25 years or older
  • You have Noonan syndrome and a mutation in your NF1 gene has been identified

If you want to help us

please write to PD Dr. Dieter Kaufmann, Department of Human Genetics, University of Ulm, Albert Einstein Allee 11, 89070 Ulm, Germany

or write an e-mail:

or call us: +49-731-50065450