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C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma
Rezan Topaloglu1, Ekim Z Taskiran, Cagman Tan
1Department of Pediatric Nephrology and Rheumatology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey. rtopalog@hacettepe.edu.tr
Insights
This study identifies a novel missense mutation in the C1q A chain gene in a Turkish patient with a lupus-like disease. This finding expands the known genetic causes of hereditary C1q deficiency.
Area of Science:
- Immunogenetics
- Molecular Medicine
Background:
- Hereditary C1q deficiency is a rare condition associated with autoimmune diseases, particularly systemic lupus erythematosus.
- Genetic defects in the C1q A, B, or C chains are responsible for this deficiency.
Observation:
- A Turkish patient presented with a lupus-like disease and C1q deficiency.
- Genetic sequencing revealed a novel missense mutation (p.Gly31 Arg) in the collagen-like domain of the C1q A chain.
Findings:
- The identified mutation was absent in 105 healthy Turkish controls.
- This missense mutation, distinct from previously common mutations, causes hereditary C1q deficiency.
- Fresh frozen plasma infusions were clinically and therapeutically successful in managing the patient.
Implications:
- Turkish patients may harbor unique mutations causing C1q deficiency.
- Missense mutations, not just nonsense mutations, can lead to hereditary C1q deficiency.
- This research contributes to understanding the genetic heterogeneity of C1q deficiency and its clinical management.
Abstract:
A Turkish patient with C1q deficiency presented with a lupus-like disease, and a new missense mutation at A chain is presented. To characterize the genetic defect, all exons of the genes for the A, B, and C chains of C1q were sequenced in the patient. This revealed a missense mutation in the collagen-like domain of the A chain, p.Gly31 Arg. No other sequence variants, including the common silent mutations, were found in the three chains. Exon 1 of the C1q A chain was sequenced in 105 samples from healthy controls for this particular mutation. None of these carried the mutation. The C1q-deficient patient was treated with fresh frozen plasma infusions. Our findings showed that Turkish patients may have different mutations than the previously described common mutation, and once again, not only nonsense mutations but also missense mutations cause hereditary C1q deficiency. Regular fresh frozen plasma infusions to the patient have been clinically and therapeutically successful.
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