WHAT GOES WRONG IN INCONTINENTIA
PIGMENTI?
Males cannot survive with a
non-functional NEMO gene, and most with the common NEMO
mutation die in
utero. In
females, some cells have a normal functioning NEMO gene
(from the normal X chromosome) while other cells have a
defective NEMO gene. It appears that the symptoms of IP in
females result from cells with a defective NEMO gene in the
affected tissue. Now that the gene has been found, this
concept is being more rigorously tested.
The normal function of NEMO is to allow cells to respond to
outside signals, such as growth factors. Follow this
link
to read more technical
information on NEMO with links to references and DNA and
protein sequence.