西班牙4例遗传性粪卟啉病的生化及遗传学特征

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.

作者信息

To-Figueras Jordi, Badenas Celia, Enríquez Maria T, Segura Sonia, Alvarez Concepción, Milà Montserrat, Lecha Marius, Herrero Carmen

机构信息

Porphyria Unit, Centre Diagnòstic Biomèdic, Hospital Clínic, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Spain.

出版信息

Mol Genet Metab. 2005 Jun;85(2):160-3. doi: 10.1016/j.ymgme.2004.12.012. Epub 2005 Feb 25.

DOI:10.1016/j.ymgme.2004.12.012

PMID:15896662

Abstract

We report a biochemical and genetic characterization of four cases of hereditary coproporphyria (HCP) in Spain. All patients showed a typical HCP porphyrin excretion pattern with a high concentration of coproporphyrins in feces and inverted I:III isomer ratio. The porphyrin precursors in urine were found elevated in two patients who showed acute symptoms. The analysis of the CPO gene showed that three cases harboured novel mutations: V135A (404T>C; exon 1); L214R (641T>G; exon 2); and P249R (746C>G; exon 3) and in the fourth, a previously described R426X mutation in exon 6.

摘要

我们报告了西班牙4例遗传性粪卟啉病（HCP）的生化和遗传学特征。所有患者均表现出典型的HCP卟啉排泄模式，粪便中粪卟啉浓度高且I:III异构体比例倒置。两名出现急性症状的患者尿液中的卟啉前体升高。CPO基因分析显示，3例携带新突变：V135A（404T>C；第1外显子）；L214R（641T>G；第2外显子）；和P249R（746C>G；第3外显子），第4例在第6外显子中有先前描述的R426X突变。