Authors: Julian P Venables, Lisa Strain, Danny Routledge, David Bourn, Helen M Powell, Paul Warwicker, Martha L Diaz-Torres, Anne Sampson, Paul Mead, Michelle Webb, Yves Pirson, Michael S Jackson, Anne Hughes, Katrina M Wood, Judith A Goodship, Timothy H. J Goodship
DOI: 10.1371/journal.pmed.0030431
Abstract Summary
Researchers discovered a hybrid gene formed by recombination between complement factor H (CFH) and a related gene (CFHL1) that causes atypical hemolytic uremic syndrome (aHUS). This hybrid produces a protein identical to a known disease-causing CFH mutation. The finding has important clinical implications: standard genetic screening may miss this hybrid gene, so enhanced testing strategies are needed before kidney transplantation in aHUS patients.
Why Brain? ðŸ§
A hybrid gene formed from complement factor H and related protein genes can cause atypical hemolytic uremic syndrome, requiring new screening methods before kidney transplant to detect this mutation.
License: CC BY.
The image is AI-generated for illustrative purposes only. Courtesy of Midjourney.
