A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.
BACKGROUND
Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by mental retardation, facial dysmorphism and susceptibility to pyogenic infections.


METHODS
We assessed a patient presenting a peculiar phenotype combining manifestations of prolidase deficiency with features typical of hyper-IgE syndrome. Mutation analysis was performed using direct PCR amplification and PCR restriction fragment length polymorphism analysis.


RESULTS
We identified a novel homozygous recessive mutation in the PEPD gene, which was found to segregate in the family of the patient with the disease and was not found in a panel of DNA samples representative of all major Druze families living in northern Israel.


CONCLUSIONS
Our results suggest that prolidase deficiency associated with hyper-IgE syndrome, a rare disorder, can be caused by mutations in PEPD.
Hershkovitz
T
T
Laboratory of Molecular Dermatology, Rambam Medical Centre, Haifa, Israel.
Hassoun
G
G
Indelman
M
M
Shlush
L I
LI
Bergman
R
R
Pollack
S
S
Sprecher
E
E