New C1q mutation in a Tunisian family

Abstract Hereditary C1q deficiency (C1qD) is the most penetrant genetic factor predisposing to the development of lupus pathology with more than 93% of C1q deficient patients developing this autoimmune pathology throughout their life. It is a rare autosomal recessive deficiency, with only 67 cases r...

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Bibliographic Details
Published in:Immunobiology (1979) 2014-03, Vol.219 (3), p.241-246
Main Authors: Jlajla, Hend, Sellami, Maryam Kallel, Sfar, Imen, Laadhar, Lilia, Zerzeri, Yousr, Abdelmoula, Mohamed Slim, Gorgi, Yousr, Dridi, Marie-Françoise, Makni, Sondes
Format: Article
Language:English
Subjects:
Adolescent
Advanced Basic Science
Allergy and Immunology
Autoimmunity
C1q deficiency
Child, Preschool
Classical pathway
Complement
Complement C1q - genetics
Complement C1q - metabolism
Disease Progression
DNA Mutational Analysis
Family
Fatal Outcome
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Hemolysis - genetics
Humans
Lupus Erythematosus, Cutaneous - genetics
Lupus Erythematosus, Cutaneous - immunology
Lupus Erythematosus, Systemic - genetics
Lupus Erythematosus, Systemic - immunology
Mutation
Mutation - genetics
Pedigree
Polymorphism, Genetic
Primary immunodeficiency
Siblings
Tunisia
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Summary:Abstract Hereditary C1q deficiency (C1qD) is the most penetrant genetic factor predisposing to the development of lupus pathology with more than 93% of C1q deficient patients developing this autoimmune pathology throughout their life. It is a rare autosomal recessive deficiency, with only 67 cases reported so far including one Tunisian girl who died at the age of three from complications resulting from severe systemic lupus erythematosus. Although C1qD was confirmed in the serum of this patient using C1q ELISA and classical pathway specific functional assays, no DNA sample had been obtained from this patient. Here we report the analysis of sera and DNA of members of this patient's closer family. Our analysis identified a homozygous mutation within the gene encoding the C-chain of C1q leading to a deficiency of C1q in an older sister of our original patient. This mutation, termed g.5580G4C, represents a single basepair substitution in exon 1 of the C1q C chain gene which changes the codon of Gly61 to Arg 61. Amongst the other 14 mutations leading to C1qD, g.5580G4C represents the first reported transversion leading to human C1qD.
ISSN:0171-2985
1878-3279
DOI:10.1016/j.imbio.2013.10.010