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.
Exon | Nucleotide | Amino acid change | Reference |
---|---|---|---|
3 | c.412C>T | Arg138Trp | Noris (2010) []5 |
4 | c.497C>T | Ser166Pro | Maga (2010) []36 |
4 | c.608G>A | Arg203Gln | Maga (2010) []36 |
5 | c.724A>C | Ile242Leu | Maga (2010) []36 |
6 | c.837A>C | Asp279Gly | Roumenina (2009) []37 |
6 | c.858C>G | Phe286Leu | Goicoechea de Jorge (2007) []20 |
7 | c.967A>G | Lys323Glu | Goicoechea de Jorge (2007) []20 |
7 | c.967A>C | Lys323Gln | Maga (2010) []36 |
8 | c.1050G>C | Lys350Asn | Raumenina (2009) []37 |
10 | c.1298T>C | Leu433Ser | Békássy (2013) []38 |
10 | c.1363G>A | Val455Ile | Bresin (2013) []25 |
10 | c.1374G>T | Met458Ile | Maga (2010) []36 |
12 | c.1598A>G | Lys533Arg | Tawadrous (2010) []39 |
16 | c.2008A>G | Lys670Glu | Zhang (2016) []40 |
2 | c.221G>A | Arg74His | Zhang (2016) []40 |
7 | c.991A>G | Asn331Asp | Yoshida (2015) []41 |
7 | c.1025T>C | Ile342Thr | – |
8 | c.1112A>G | Asp371Gly | Phillips (2016) []42 |
13 | c.1697A>C | Glu566Ala | Feng (2013) []43 |