Molecular characterization of complement Factor I deficiency in two Spanish families
Molecular characterization of complement Factor I deficiency in two Spanish families
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DOI：
10.1016/j.molimm.2008.02.008
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发表时间：
2008-05-01
影响因子：
3.6
通讯作者：
Lopez-Trascasa, Margarita
中科院分区：
文献类型：
--
作者：
Maria Ponce-Castro, Isabel;Gonzalez-Rubio, Carolina;Lopez-Trascasa, Margarita
补体因子I（CFI）是经典途径和旁路途径的调节剂。CFI具有酶活性，能够切割C3 b和C4 b。纯合子因子I缺乏症与感染性和/或自身免疫性疾病有关。在这里，我们描述了两个西班牙家族的生化和遗传特征与完全因子I缺乏症。在家庭1中，先证者患脑膜炎一年多来多次发作。生化补体研究表明，在先证者和她的妹妹中检测不到I因子水平，而他们的父母和一个兄弟有部分I因子缺乏症，并且健康。在第二个家庭中，五分之三的儿童是因子I缺乏症纯合子，其中两人患有脑膜炎，第三人患有多种感染。父母和其他两个兄弟姐妹是健康和杂合子的因子I deficiency.Molecular研究表明，这两个家庭有不同的突变在外显子5的因子I基因，编码模块LDLr 1。一个突变对应于供体剪接位点的772 G> A变化，该突变最初在来自北方英格兰的一个家族中发现。第二个是新的错义突变739 T> G，其产生Cys到Gly的改变。(c)2008爱思唯尔有限公司保留所有权利。
Complement Factor I (CFI) is a regulator of the classical and alternative pathways. CFI has enzymatic activity and is able to cleave C3b and C4b. Homozygous Factor I deficiency is associated with infectious and/or autoimmune diseases.Here we describe the biochemical and genetic characterization in two Spanish families with complete Factor I deficiency. In Family 1, the propositus suffered from several episodes of meningitis for more than a year. Biochemical complement studies showed undetectable Factor I levels in the propositus and in her sister, while their parents and a brother had partial Factor I deficiency and were healthy. In Family 2, three out of five children were homozygous for Factor I deficiency, two of whom suffered from meningitis and the third one from several infections. The parents and the other two siblings were healthy and heterozygous for Factor I deficiency.Molecular studies showed that the two families had different mutations at exon 5 of the Factor I gene, which codifies for module LDLr1. One mutation corresponds to a 772G > A change at the donor splice site that was originally found in a family from Northern England. The second is a new missense mutation 739T > G, that generates a Cys to Gly change. (c) 2008 Elsevier Ltd. All rights reserved.