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 141
- Downloads 0
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