Genetic Bases of Human Complement C7 Deficiency

Hiroaki Nishizaka, Takahiko Horiuchi, Zeng Bian Zhu, Yasuo Fukumori, John E. Volanakis

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)

Abstract

Complement C7 deficiency (C7D) is associated frequently with recurrent bacterial infections, especially meningitis caused by Neisseria meningitidis. We report in this work the molecular bases of C7D in two unrelated Japanese males. We used exon-specific PCR/single-strand conformation polymorphism analysis as a screening step for mutations. Subsequent direct sequencing of the target exons identified homozygous mutations in exon 16 of case 1 and in exon 15 of case 2. The mutation of case 1 was a homozygous T to A transversion at nucleotide 2250, the third nucleotide of the codon TGT for Cys728, leading to a stop codon TGA (C728X). In case 2, a homozygous 2-bp deletion (2137delTG/2138delGT/2139delTG) caused a frameshift, generating a premature termination codon 4 to 6 nucleotides downstream. Family study in case 1 confirmed the genetic nature of the defect. Moreover, we detected a novel polymorphism in intron 11 that presumably is linked to the mutation responsible for C7D in case 1. Our results indicate that the pathogenesis of C7D is heterogeneous like most of the other deficiencies of complement components.

Original languageEnglish
Pages (from-to)4239-4243
Number of pages5
JournalJournal of Immunology
Volume157
Issue number9
Publication statusPublished - Nov 1 1996

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology

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