Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency
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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.
I: Journal of Investigational Allergology and Clinical Immunology, Bind 20, Nr. 3, 01.01.2010, s. 255-8.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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 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.
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 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.
M3 - Journal article
VL - 20
SP - 255
EP - 258
JO - Journal of Investigational Allergology and Clinical Immunology
JF - Journal of Investigational Allergology and Clinical Immunology
SN - 1018-9068
IS - 3
ER -
ID: 34135797