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A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE
T Hershkovitz1, G Hassoun, M Indelman
1Laboratory of Molecular Dermatology, Rambam Medical Centre, Haifa, Israel.
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.
Discussion:
Our results suggest that prolidase deficiency associated with hyper-IgE syndrome, a rare disorder, can be caused by mutations in PEPD.
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