

Phosphatemic Rickets, an X-linked
dominant trait
X-linked
hypophosphatemia (XLH)
is an X-linked dominant
disorder characterized by growth retardation, rickets (softening
and
weakening of the bones), and hypophosphatemia
[too little PO4
in the blood] due to kidney defects in phosphate
resorption and Vitamin D
metabolism. XLH occurs
in women heterozygous for a causative allele, hence its
characterization as Dominant. It is however much
less severe in women,
as the standard allele on the alternative X chromosome
provides some
compensation for XLH allele.
The
responsible gene is Phex (Phosphate-regulating
gene homologous
to Endopeptidases
on the X
chromosome) (
Xp22.2-p22.1).
Figure ©2002
by
Griffiths et al.; all text
material
©2014 by Steven M. Carr