Molecular defects leading to human complement component C6 deficiency in an African-American family

Academic Article

Abstract

  • Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. Both mutations result in premature termination codons and C6 null alleles. Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father.
  • Authors

    Digital Object Identifier (doi)

    Pubmed Id

  • 23846409
  • Author List

  • Zhu ZB; Totemchokchyakarn K; Atkinson TP; Volanakis JE
  • Start Page

  • 91
  • End Page

  • 96
  • Volume

  • 111
  • Issue

  • 1