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Neurofibromatosis I

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Atlas of Genetic Diagnosis and Counseling

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Neurofibromatosis I (NF1) was described in 1882 by von Recklinghausen (von Recklinghausen 1882) who gave the disease its first full description, including recognition that the tumors arose from the fibrous tissue surrounding small nerves, leading to his designation of these tumors as “neurofibromas.” Thus, it is also called von Recklinghausen disease. It is one of the most common dominantly inherited genetic disorders affecting about 1 in 3,000 newborns and 1,000,000 people worldwide.

Synonyms and Related Disorders

Peripheral type neurofibromatosis; von Recklinghausen disease

Genetics/Basic Defects

  1. 1.

    Inheritance

    1. a.

      Autosomal dominant

    2. b.

      High spontaneous mutation rate

      1. i.

        One of the highest in humans (1 × 10−4 per gamete per generation)

      2. ii.

        50% of the cases are due to new mutations.

      3. iii.

        Most patients are expected to have different mutations due to the high mutation rate at the NF1 locus.

    3. c.

      Full penetrance: essentially 100% in adults after careful examination by a slit-lamp examination

      ...

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Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Neurofibromatosis I. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_178

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