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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, Birgitta LU ; Melander Skattum, Lillemor LU ; Schejbel, L.; Garred, P. and Truedsson, Lennart LU (2010) In Journal of Investigational Allergology & Clinical Immunology 20(3). p.255-258
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 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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Investigational Allergology & Clinical Immunology
volume
20
issue
3
pages
255 - 258
publisher
Hogrefe & Huber Publishers
external identifiers
  • wos:000278709800012
  • scopus:77954354590
ISSN
1698-0808
language
English
LU publication?
yes
id
e033124d-b49a-4da4-812e-1bcccd345546 (old id 1630963)
alternative location
http://www.jiaci.org/issues/vol20issue3/vol20issue03-12.htm
date added to LUP
2010-07-22 13:33:27
date last changed
2018-05-29 09:47:36
@article{e033124d-b49a-4da4-812e-1bcccd345546,
  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 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.},
  author       = {Gulez, N. and Genel, F. and Atlihan, F. and Gullstrand, Birgitta and Melander Skattum, Lillemor and Schejbel, L. and Garred, P. and Truedsson, Lennart},
  issn         = {1698-0808},
  language     = {eng},
  number       = {3},
  pages        = {255--258},
  publisher    = {Hogrefe & Huber Publishers},
  series       = {Journal of Investigational Allergology & Clinical Immunology},
  title        = {Homozygosity For a Novel Mutation in the C1q C Chain Gene in a Turkish Family With Hereditary C1q Deficiency},
  volume       = {20},
  year         = {2010},
}