Molecular characterization of Complement Factor I deficiency in two Spanish families

Mol Immunol. 2008 May;45(10):2764-71. doi: 10.1016/j.molimm.2008.02.008. Epub 2008 Mar 28.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Blotting, Western
  • Child
  • Child, Preschool
  • Complement Factor I / chemistry
  • Complement Factor I / deficiency*
  • Complement Factor I / genetics*
  • Contig Mapping
  • DNA Mutational Analysis
  • DNA, Complementary
  • Family
  • Female
  • Genome, Human / genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation / genetics
  • Pedigree
  • Protein Structure, Tertiary
  • Spain
  • White People / genetics*

Substances

  • DNA, Complementary
  • Complement Factor I