Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family

Détails

ID Serval
serval:BIB_B5AFA8E6B34C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family
Périodique
Kidney International
Auteur⸱e⸱s
Topaloglu  R., Bakkaloglu  A., Slingsby  J. H., Mihatsch  M. J., Pascual  M., Norsworthy  P., Morley  B. J., Saatci  U., Schifferli  J. A., Walport  M. J.
ISSN
0085-2538
Statut éditorial
Publié
Date de publication
08/1996
Peer-reviewed
Oui
Volume
50
Numéro
2
Pages
635-42
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Résumé
Two siblings (case 1 and case 2) with homozygous C1q deficiency are described. Both presented with a photosensitive rash, and during follow-up case one developed SLE with nephrotic range proteinuria. Case 2 had microscopic hematuria with a past history of macroscopic hematuria. Renal biopsies revealed mesangioproliferative glomerulonephritis in case 1 and IgA nephropathy in case 2, a new finding in association with C1q deficiency. Since the classical pathway of complement plays a role in the development of antibody responses, the family was also evaluated for the immune response to hepatitis B vaccine. Antibody response to hepatitis B vaccine was normal in both affected members and the rest of the family. The A-, B- and C- chain genes of C1q were amplified by PCR and directly sequenced. A homozygous C to T point mutation was identified in genomic DNA isolated from the patients at codon 186 in the A chain that resulted in a premature stop codon. This mutation was present in both parents and both unaffected sibs in the heterozygous state. This mutation was identical to that previously described in a Slovakian family with C1q deficiency. Because of this finding, a series of 92 genomic DNA samples was screened from ethnically distinct patient groups with SLE to test the hypothesis that this mutation of C1q may be a widespread disease susceptibility gene. No further examples of this mutation were found.
Mots-clé
Adolescent Base Sequence Child Child, Preschool Complement C1q/*deficiency/*genetics DNA Primers/genetics Female Glomerulonephritis, IGA/blood/complications/*genetics Glomerulonephritis, Membranoproliferative/blood/complications/genetics Hepatitis B Vaccines/immunology Homozygote Humans Immunization Lupus Erythematosus, Systemic/blood/complications/*genetics Male Pedigree Point Mutation Polymerase Chain Reaction Turkey
Pubmed
Web of science
Open Access
Oui
Création de la notice
29/01/2008 13:52
Dernière modification de la notice
20/08/2019 15:24
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