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

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Standard

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.

In: Journal of Investigational Allergology and Clinical Immunology, Vol. 20, No. 3, 01.01.2010, p. 255-8.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Gulez, N, Genel, F, Atlihan, F, Gullstrand, B, Skattum, L, Schejbel, L, Garred, P & Truedsson, L 2010, 'Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency', Journal of Investigational Allergology and Clinical Immunology, vol. 20, no. 3, pp. 255-8.

APA

Gulez, N., Genel, F., Atlihan, F., Gullstrand, B., Skattum, L., Schejbel, L., Garred, P., & Truedsson, L. (2010). Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. Journal of Investigational Allergology and Clinical Immunology, 20(3), 255-8.

Vancouver

Gulez N, Genel F, Atlihan F, Gullstrand B, Skattum L, Schejbel L et al. Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. Journal of Investigational Allergology and Clinical Immunology. 2010 Jan 1;20(3):255-8.

Author

Gulez, N ; Genel, F ; Atlihan, F ; Gullstrand, B ; Skattum, L ; Schejbel, L ; Garred, P ; Truedsson, L. / Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. In: Journal of Investigational Allergology and Clinical Immunology. 2010 ; Vol. 20, No. 3. pp. 255-8.

Bibtex

@article{b922c50691f7427db6c987aea9357818,
title = "Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency",
abstract = "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.",
author = "N Gulez and F Genel and F Atlihan and B Gullstrand and L Skattum and L Schejbel and P Garred and L Truedsson",
year = "2010",
month = jan,
day = "1",
language = "English",
volume = "20",
pages = "255--8",
journal = "Journal of Investigational Allergology and Clinical Immunology",
issn = "1018-9068",
publisher = "Esmon Publicidad",
number = "3",

}

RIS

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