Neurofibromatosis type 1

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  • Symptoms of neurofibromatosis type 1
  • Life expectancy and therapy for neurofibromatosis type 1
  • Neurofibromatosis type 2
  • Symptoms of neurofibromatosis type 2

Classification

  • Neurofibromatosis type 1
  • Neurofibromatosis type 2

Synonyms in a broader sense

  • Recklinghausen disease
  • Morbus of Recklinghausen
  • NF1
  • Peripheral neurofibromatosis

Definition and introduction

Neurofibromatosis type 1 is a genetic disease which is inherited autosomal dominant. A genetic mutation in the “neurofibromin gene” on chromosome 17 leads to changes especially in: It is a monogenic disease with an age-dependent manifestation (penetrance). The degree of expression is also variable. In 50% of the cases it is a new mutation.

  • Nervous System
  • Skin and
  • Skeleton.

Diagnosis

The detection of the mutated gene on chromosome 17 by means of laboratory analysis can confirm the diagnosis. However, these procedures are time-consuming and expensive, so that they are usually not necessary. The diagnosis is therefore usually made clinically on the basis of the main criteria described above, whereby at least two must apply. Of these main criteria, two stand out in particular. The neurofibromas specific for neurofibromatosis and the café-au-lait stains that are often conspicuous even in infancy.

EpidemiologyFrequency

The incidence, that means frequency in the population, is 1:3500 newborns. Men and women are equally affected. 50% of cases are new mutations.

The mutation of the neurofibromin gene on chromosome 17 is a new mutation in 50% of cases. This can lead to: etc. Neurofibromine is a human protein which is located in the cells and is responsible for a so-called RAS-GAP signaling cascade together with other proteins.

As a negative regulator, together with the other proteins it ensures a balance between growth and differentiation (specialization function) of cells. If this neurofibromin is missing or deficient due to a mutation, this balance is broken and the focus is on growth. In simple terms, there is a lot of neurofibromine, but it is of poor quality.

  • Point mutations (exchange of bases in the DNA = change of the genetic code))
  • Deletions (loss of DNA parts)
  • Duplications (doubling of DNA parts)
  • Insertions (twisting of DNA parts)
  • Splice mutations