dc.contributor.author | Topaloglu, R | |
dc.contributor.author | Bakkaloglu, A | |
dc.contributor.author | Slingsby, JH | |
dc.contributor.author | Mihatsch, MJ | |
dc.contributor.author | Pascual, M | |
dc.contributor.author | Norsworthy, P | |
dc.contributor.author | Morley, BJ | |
dc.contributor.author | Saatci, U | |
dc.contributor.author | Schifferli, JA | |
dc.contributor.author | Walport, MJ | |
dc.date.accessioned | 2019-12-10T10:41:03Z | |
dc.date.available | 2019-12-10T10:41:03Z | |
dc.date.issued | 1996 | |
dc.identifier.issn | 0085-2538 | |
dc.identifier.uri | https://doi.org/10.1038/ki.1996.359 | |
dc.identifier.uri | http://hdl.handle.net/11655/14163 | |
dc.description.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 stale. 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. | |
dc.language.iso | en | |
dc.publisher | Elsevier Science Inc | |
dc.relation.isversionof | 10.1038/ki.1996.359 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Urology & Nephrology | |
dc.title | Molecular Basis Of Hereditary C1Q Deficiency Associated With Sle And Iga Nephropathy In A Turkish Family | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Kidney International | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 50 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 635 | |
dc.identifier.endpage | 642 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |