title: Association between familial deficiency of mannose-binding lectin and mutations in the corresponding gene and promoter region.
abstract: In a recent report, our group presented clinical research data supporting the role of mannose-binding lectin (MBL) deficiency in susceptibility to meningococcal disease (W. A. Bax, O. J. J. Cluysenaer, A. K. M. Bartelink, P. C. Aerts, R. A. B. Ezekowitz, and H. van Dijk, Lancet 354:1094-1095, 1999). This association was reported earlier by Hibberd et al. (M. L. Hibberd, M. Sumiya, J. A. Summerfield, R. Booy, M. Levin, and the Meningococcal Research Group, Lancet 353:1049-1053, 1999) but was not based on family data. Our study included three members of one family who had acquired meningococcal meningitis in early adulthood. The objective of the present study was to investigate whether the genotypes of the MBL gene in this family, analyzed by PCR, correlate with MBL concentrations. We found that genotype variants in the MBL gene and promoter region match the low functional MBL levels (<0.25 microg of equivalents/ml) in the sera of the three patients in this family and that a significant correlation between genotype MBL deficiency and meningococcal disease existed.
authors.affiliation: Department of Medical Microbiology and Immunology, Meander Medical Centre, Amersfoort, The Netherlands. m.salimans@meandermc.nl
authors.forename: M M M
authors.initials: MM
authors.lastname: Salimans
authors.forename: W A
authors.initials: WA
authors.lastname: Bax
authors.forename: F
authors.initials: F
authors.lastname: Stegeman
authors.forename: M
authors.initials: M
authors.lastname: van Deuren
authors.forename: A K M
authors.initials: AK
authors.lastname: Bartelink
authors.forename: H
authors.initials: H
authors.lastname: van Dijk
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D037601:Mannose-Binding Lectin / Q000172:deficiency* / Q000235:genetics*; D008585:Meningitis, Meningococcal / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D037601:Mannose-Binding Lectin