Homozygosity For a Novel Mutation in the C1q C Chain Gene in a Turkish Family With Hereditary C1q Deficiency
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1630963
- author
- Gulez, N. ; Genel, F. ; Atlihan, F. ; Gullstrand, Birgitta LU ; Melander Skattum, Lillemor LU ; Schejbel, L. ; Garred, P. and Truedsson, Lennart LU
- organization
- publishing date
- 2010
- 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
- 2016-04-01 10:28:14
- date last changed
- 2022-01-25 23:31:56
@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}}, url = {{http://www.jiaci.org/issues/vol20issue3/vol20issue03-12.htm}}, volume = {{20}}, year = {{2010}}, }