Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

28 October 2022: Articles

Novel Complement Factor B Gene Mutation Identified in a Kidney Transplant Recipient with a Shiga Toxin-Triggered Episode of Thrombotic Microangiopathy

Rare disease

Joanna Korzycka B , Ewa Pawłowicz-Szlarska B , Anna Masajtis-Zagajewska C , Michał Nowicki A*

DOI: 10.12659/AJCR.936565

Am J Case Rep 2022; 23:e936565

Table 1. CFB gene point mutations identified as causative or likely causative of the atypical HUS phenotype.

ExonNucleotideAmino acid changeReference
3c.412C>TArg138TrpNoris (2010) []5
4c.497C>TSer166ProMaga (2010) []36
4c.608G>AArg203GlnMaga (2010) []36
5c.724A>CIle242LeuMaga (2010) []36
6c.837A>CAsp279GlyRoumenina (2009) []37
6c.858C>GPhe286LeuGoicoechea de Jorge (2007) []20
7c.967A>GLys323GluGoicoechea de Jorge (2007) []20
7c.967A>CLys323GlnMaga (2010) []36
8c.1050G>CLys350AsnRaumenina (2009) []37
10c.1298T>CLeu433SerBékássy (2013) []38
10c.1363G>AVal455IleBresin (2013) []25
10c.1374G>TMet458IleMaga (2010) []36
12c.1598A>GLys533ArgTawadrous (2010) []39
16c.2008A>GLys670GluZhang (2016) []40
2c.221G>AArg74HisZhang (2016) []40
7c.991A>GAsn331AspYoshida (2015) []41
8c.1112A>GAsp371GlyPhillips (2016) []42
13c.1697A>CGlu566AlaFeng (2013) []43

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923