一种新基因型导致两兄弟轻度先天性红细胞生成性卟啉症  

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype

作　　者：Berry A.A. Desnick R.J. Astrin K.H. H.W. Lim 潘敏 

机构地区：[1]Department of Dermatology, Henry Ford Medical Center,New Center One, 3031 W Grand Blvd, Detroit, MI 48202,United States Dr

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第3期28-28,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Backgro(1575und: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen III synthase (URO-synthase), and the accumulation of the non physiologic and phototoxic porphyrin I isomers. Clinical manifestations range from severe mutilation to mild erosions and blisters on sun-exposed areas. Evaluation of the URO-synthase mutation and residual enzyme activity has been correlated with the phenotypic expression of the disease. Observations: We describe 16- and 4-year-old brothers with CEP with a mild phenotype due to a novel genotype,one allele having a promoter mutation (- 76G→ A) and the other having an exonic missense mutation (G225S). The father and a 4-year-old fraternal twin brother were carriers of the - 76G→ A mutation, whereas the mother and a 16-year-old brother were carriers of the G225S mutation. Previous in vitro expression studies demonstrated that the G225S mutation severely decreased URO-synthase activity to 1.2% of normal, whereas the promoter mutation decreased the activity to approximately 50% of wild type, accounting for the mild clinical phenotype. Conclusion: The mild disease phenotype in these patients is a further example of the clinical heterogeneity seen in CEP and is additional proof that in vitro enzyme expression studies provide dependable genotype-phenotype correlations.Backgro（3575und： Congenital erythropoietic porphyria （CEP） is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen Ⅲ synthase （URO-synthase）, and the accumulation of the non physiologic and phototoxic porphyrin Ⅰ isomers. Clinical manifestations range from severe mutilation to mild erosions and blisters on sun-exposed areas. Evaluation of the URO-synthase mutation and residual enzyme activity has been correlated with the phenotypic expression of the disease. Observations： We describe 16-and 4-year-old brothers with CEP with a mild phenotype due to a novel genotype, one allele having a promoter mutation （-76G→A） and the other having an exonic missense mutation （G225S） .

关 键 词：红细胞生成性 新基因型 卟啉症 先天性 轻度 常染色体隐性遗传病 生物合成酶 错义突变 亚铁血红素 非生理性 

分 类 号：R589.8[医药卫生—内分泌] R511.1[医药卫生—内科学]