A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency

Takahiko Horiuchi, Joana M. Ferrer, Pau Serra, Nüria Matamoros, Margarita Löpez-Trascasa, Chinami Hashimura, Yoshiyuki Niho

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Abstract

Deficiency of the seventh component of complement (C7D) is frequently associated with recurrent neisserial infections. We report in the present study the genetic basis for C7D in a Spanish family. We used exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis as a screening step for mutations, followed by direct sequencing of the target exon. The mutation in the proband was a homozygous G-to-T transversion at nucleotide 1957, the first nucleotide of the codon GAG for Glu-631, leading to a stop codon TAG (E631X). Our result provides further evidence that the molecular pathogenesis of C7D is heterogeneous.

Original languageEnglish
Pages (from-to)215-218
Number of pages4
JournalJournal of Human Genetics
Volume44
Issue number3
DOIs
Publication statusPublished - May 20 1999

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Horiuchi, T., Ferrer, J. M., Serra, P., Matamoros, N., Löpez-Trascasa, M., Hashimura, C., & Niho, Y. (1999). A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency. Journal of Human Genetics, 44(3), 215-218. https://doi.org/10.1007/s100380050146