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A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome
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A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome
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A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome
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Journal Article
A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome
2013
Overview
Background
Mutations in complement factor H (
CFH
) are associated with complement dysregulation and the development of an aggressive form of atypical hemolytic uremic syndrome (aHUS) that progresses to end-stage renal disease (ESRD) and in most patients has a high rate of recurrence following transplantation. Sequence analysis of
CFH
and its downstream complement factor H-related genes (
CFHR1-5
) reveals several macrohomologous blocks caused by large genomic duplications. This high degree of sequence identity renders this area susceptible to nonallelic homologous recombination (NAHR) events, resulting in large-scale deletions, duplications, and the generation of hybrid
CFH
genes.
Case-Diagnosis
Here, we report the finding of a novel
CFHR1/CFH
hybrid gene created by a de novo NAHR event in a 14-year-old girl with aHUS. The resulting fusion protein contains the first three short consensus repeats (SCRs) of CFHR1 and the terminal two SCRs of CFH.
Conclusions
This finding demonstrates a novel pathogenic mechanism for the development of aHUS. Additionally, since standard Sanger sequencing is unable to detect such rearrangements, all aHUS patients should receive comprehensive genetic screening that includes analysis of copy number variation in order to identify patients with poor clinical prognoses.
Publisher
Springer Berlin Heidelberg,Springer,Springer Nature B.V
Subject
/ Antibodies, Monoclonal, Humanized - therapeutic use
/ Child
/ Complement C3b Inactivator Proteins - genetics
/ Complement Factor H - genetics
/ Female
/ Genes
/ Hemolytic-Uremic Syndrome - genetics
/ Humans
/ Immunosuppressive Agents - therapeutic use
/ Kidneys
/ Medicine
/ Mutation
/ Patients
/ Urology
