Anderson HE

Araujo GSR

Awan A

Brocklebank V

Challis RC

Dorman AM

Goodship THJ

Harris CL

Kavanagh D

Marchbank KJ

Morgan BP

Strain L

Waldron M

Wilson V

Wong EKS

The Regulators of Complement Activation cluster at chromosome 1q32 contains the genes encoding the complement regulator factor H and five factor H related proteins. This is an area of the genome that arose from several large genomic duplications and these low copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical haemolytic uraemic syndrome, arising commonly through non-allelic homologous recombination (NAHR). We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3kb deletion which arose through microhomology mediated end joining rather than NAHR. We confirm a transcript from this hybrid gene and demonstrate a secreted protein product. Lacking the recognition domain of factor H, this hybrid protein has impaired cell surface complement regulation. That this arose as a de novo event suggests that this is a dynamic area of the genome where further genomic disorders may arise

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A <em>De Novo</em> Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H–Related 3 Gene in Atypical Hemolytic Uremic Syndrome

A <em>De Novo</em> Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H–Related 3 Gene in Atypical Hemolytic Uremic Syndrome

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