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

TY - JOUR

T1 - Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency

AU - Gulez, N

AU - Genel, F

AU - Atlihan, F

AU - Gullstrand, B

AU - Skattum, L

AU - Schejbel, L

AU - Garred, P

AU - Truedsson, L

PY - 2010/1/1

Y1 - 2010/1/1

N2 - 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 C1q. 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.

AB - 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 C1q. 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.

M3 - Journal article

SN - 1018-9068

VL - 20

SP - 255

EP - 258

JO - Journal of Investigational Allergology and Clinical Immunology

JF - Journal of Investigational Allergology and Clinical Immunology

IS - 3

ER -