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Eur J Hum Genet. 2000 Jul;8(7):513-8.

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

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  • 1Department of Clinical Genetics, Amsterdam, The Netherlands. R.vandenBogaard@amc.uva.nl

Abstract

Properdin type I deficiency is characterised by complete absence of extracellular properdin, a positive regulator of the alternative pathway of complement activation. Properdin deficiency is associated with increased susceptibility to severe meningococcal disease. We have identified the genetic defect in 10 Dutch families. Six different mutations and one sequence polymorphism in the properdin gene were found. All amino acid substitutions were limited to conserved amino acids in exons 7 and 8 in contrast to the premature stops that were found in other exons. The missense mutations may alter the protein conformation in such a way that properdin will not be secreted and therefore catabolised intracellularly. The decreased properdin levels found in some healthy females carrying one mutated properdin gene were studied for X-inactivation. Most carriers with extreme low or high properdin levels showed preferential X-inactivation for the normal or mutated X chromosome, respectively. We observed some exceptions, suggesting additional regulation of properdin excretion apart from X-inactivation.

PMID:
10909851
[PubMed - indexed for MEDLINE]
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