The high frequency of Complement Factor H-Related CFHR1 Gene Deletion is restricted to specific subgroups of patients with atypical Haemolytic Uraemic Syndrome

Marie-Agnès Dragon-Durey (1, 2) , Caroline Blanc (1) , Florence Marliot (2) , Chantal Loirat (3) , Jacques Blouin (2) , Catherine Sautes-Fridman (1) , Wolf Herman Fridman (1, 2) , Véronique Frémeaux-Bacchi (1, 2)

1 CRC (UMR_S 872) - Centre de Recherche des Cordeliers
2 Service d'immunologie [HEGP, Paris]
3 Service de néphrologie

Deletion of the Complement Factor H Related 1 (CFHR1) gene is a consequence of non-allelic homologous recombination and has been reported to be more frequent in atypical haemolytic uraemic syndrome (aHUS) patients than in the normal population. Therefore, it is considered a susceptibility factor for the disease. Atypical HUS is associated with hereditary or acquired abnormalities that lead to uncontrolled alternative pathway complement activation. We tested the CFHR1 deletion for association with aHUS in a population of French aHUS cases and controls. Furthermore, we examined the effect of the deletion in the context of known aHUS risk factors.

Mots clés: Diagnostics tests; Genetic screening/counselling; Molecular genetics; Immunology (including allergy); Renal Medicine

Marie-Agnès Dragon-Durey, Caroline Blanc, Florence Marliot, Chantal Loirat, Jacques Blouin, et al.. The high frequency of Complement Factor H-Related CFHR1 Gene Deletion is restricted to specific subgroups of patients with atypical Haemolytic Uraemic Syndrome. Journal of Medical Genetics, 2009, 46 (7), pp.447. ⟨10.1136/jmg.2008.064766⟩. ⟨hal-00552679⟩