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A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome

Authors


  • Conflict of interest: none declared

  • The first two authors contributed equally to this work.

Eli Sprecher MD PhD, Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, POB 9602, Haifa 31096, Israel. Email: e_sprecher@rambam.health.gov.il

Summary

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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