Multiplicity as a Factor in Understanding NF1

Journal Title: Neuro – Open Journal - Year 2018, Vol 5, Issue 1

Abstract

The NF1 locus on the long arm of chromosome 17 is a very special gene in the human genome. In terms of multiplicity, there are five pseudogenes on five other chromosomes; it influences the formation and/or behavior of many tissues; it is probably the locus with highest germinal mutation rate in humans (1 in 10,000), with a disease frequency of 1/2,500-1/3,000. There are several other multiplicities that persist in confounding our understanding of this very common autosomal dominant disorder. This editorial focuses on three considerations: 1) How many types of Neurofibromatosis (NF) are there? 2) How many types of NF1 neurofibromas are there? 3) What are the logical/causative relationships of the numerous pathogenetic and clinical elements of the full-blown syndrome or portions of it?

Authors and Affiliations

Vincent M. Riccardi

Keywords

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  • EP ID EP552457
  • DOI 10.17140/NOJ-5-e009
  • Views 140
  • Downloads 0

How To Cite

Vincent M. Riccardi (2018). Multiplicity as a Factor in Understanding NF1. Neuro – Open Journal, 5(1), 3-4. https://europub.co.uk/articles/-A-552457