Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1996-12-27
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Aug
|
| pubmed:issn |
0085-2538
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
50
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
635-42
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:8840296-Adolescent,
pubmed-meshheading:8840296-Base Sequence,
pubmed-meshheading:8840296-Child,
pubmed-meshheading:8840296-Child, Preschool,
pubmed-meshheading:8840296-Complement C1q,
pubmed-meshheading:8840296-DNA Primers,
pubmed-meshheading:8840296-Female,
pubmed-meshheading:8840296-Glomerulonephritis, IGA,
pubmed-meshheading:8840296-Glomerulonephritis, Membranoproliferative,
pubmed-meshheading:8840296-Hepatitis B Vaccines,
pubmed-meshheading:8840296-Homozygote,
pubmed-meshheading:8840296-Humans,
pubmed-meshheading:8840296-Immunization,
pubmed-meshheading:8840296-Lupus Erythematosus, Systemic,
pubmed-meshheading:8840296-Male,
pubmed-meshheading:8840296-Pedigree,
pubmed-meshheading:8840296-Point Mutation,
pubmed-meshheading:8840296-Polymerase Chain Reaction,
pubmed-meshheading:8840296-Turkey
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.
|
| pubmed:affiliation |
Department of Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|