编码肽酶D的PEPD基因发生纯合错义突变引发氨酰基脯氨酸酶缺乏症伴高IgE综合征  

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

作　　者：Hershkovitz T. Hassoun G. IndelmanM. E. Sprecher 吴佳纹 

机构地区：[1]Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center,POB 9602, Haifa 31096, Israel Dr.

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第5期41-41,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：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.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.

关 键 词：氨酰基脯氨酸酶 PEPD基因 错义突变 纯合 肽酶 精神发育迟缓 面部畸形 隐性突变 化脓性感染 表 

分 类 号：R596[医药卫生—内科学]