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Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency

Gulez, N.; Genel, F.; Atlihan, F.; Gullstrand, B.; Skattum, L.; Schejbel, L.; Garred, P.; Truedsson, L.

Journal of Investigational Allergology and Clinical Immunology 20(3): 255-258

2010

ISSN/ISBN: 1018-9068
PMID: 20635792
Document Number: 641736
Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus and increased susceptibility to severe recurrent infections. An 11-year-old girl was screened for immunodeficiency due to a history of recurrent meningitis and pneumonia. Immunologic studies revealed absence of classic pathway hemolytic activity and undetectable levels of Clq. Exon-specific amplification of genomic DNA by polymerase chain reaction followed by direct sequence analysis revealed a novel homozygous missense mutation at codon 48 in the C1q C gene causing a glycine-to-arginine substitution affecting the collagen-like region of C1q. No changes were seen in the exons of the A and B chains. The mutation affected both the formation and the secretion of C1q variant molecules. We describe a novel mutation in the C1q C chain gene that leads to an interchange in amino acids resulting in absence of C1q in serum.

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