Premium
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper‐IgE syndrome
Author(s) -
Hershkovitz T.,
Hassoun G.,
Indelman M.,
Shlush L. I.,
Bergman R.,
Pollack S.,
Sprecher E.
Publication year - 2006
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2006.02112.x
Subject(s) - missense mutation , mutation , medicine , immunoglobulin e , genetics , biology , immunology , gene , antibody
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 .