Table 2 Previously reported CFB mutations in patients with atypical hemolytic uremic syndrome reported in the English-language literature
Case reports | Sex | Age | Mutation; amino acid change |
|---|---|---|---|
Fremeaus-Bacchi et al. [2] | – | – | p. V455I |
Goicoechea de Jorge et al. [3] | M | 23 years | c.858C>G; p.F286L |
M | 4 months | c.967A>G; p.K323E | |
Tawadrous et al. [4] | F | 8 years | c.1598A>G; p.K533R |
Funato et al. [5] | F/M/F | 8/6/20 years | c.1050G>C; p.K350N |
Noris et al. [6] | – | – | R183W |
Marinozzi et al. [7] | – | – | c.1598A>G; K508R |
Bekassy et al. [9] | F | 12 years | c. 1298T>C; c.L433S |
Gilbert et al. [10] | F | 4 months | c.967A>C; p. K323Q |
Maga et al. [11] | – | – | c.497C>T; p.S166P c.608G>A; p.R203Q c.724A>C; p.I242L c.967A>C; p.K323Q c.1365C>T; p.M458I c.1598A>G; p.K533R |
Roumenina et al. [19] | M | 53 years | c.837A>C: p.D254G |
F | 33 years | c.1050G>C: p. K325N | |
F | 19 months | c.1050G>C; p.K350N | |
Zhu et al.[present report] | M | 26 | p.K533R |