Multiplicity as a Factor in Understanding NF1 Vincent M.

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?