Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family
Details
Serval ID
serval:BIB_B5AFA8E6B34C
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family
Journal
Kidney International
ISSN
0085-2538
Publication state
Published
Issued date
08/1996
Peer-reviewed
Oui
Volume
50
Number
2
Pages
635-42
Notes
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Aug
Abstract
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.
Keywords
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
Yes
Create date
29/01/2008 13:52
Last modification date
20/08/2019 15:24