Table 2 Genetic analyses
Gene | Variation | Description | Disease association | Daughter, (TMA/aHUS) | Mother (anti-GBMGN) |
|---|---|---|---|---|---|
CFI | NG_007569 | ||||
c.5256A>G | Intron rs7671905 | Polymorphism | homozygous | homozygous | |
c.42455C>T | Intron rs79375065 | Polymorphism | heterozygous | Non-carrier | |
c.46524G>A | Intron rs4382037 | Polymorphism | homozygous | homozygous | |
c.46615G>A | G261D | Mutation reported in MPGN and aHUS | heterozygous | Non-carrier | |
c.49140C>A | Intron rs7437142 | Polymorphism | homozygous | homozygous | |
c.49159ins AATTT | Intron rs78629056 | Polymorphism | homozygous | homozygous | |
c.57335C>G | Intron rs7441380 | Polymorphism | homozygous | homozygous | |
c.66205C>T | Intron rs551 | Polymorphism | homozygous | homozygous | |
CFH | NG_007259.1 | ||||
c.38184A>C | A307A | Disease risk polymophism (AMD) | heterozygous | Non-carrier | |
c.43097C>T | H402Y | Disease risk polymophism (AMD) | heterozygous | Non-carrier | |
c.79602A>G | Q672Q | Disease risk polymorphism (aHUS) | heterozygous | heterozygous | |
c.89786C>A | Intron rs375046 | Polymorphism | heterozygous | heterozygous | |
c.93634G>T | E936D | Disease risk polymorphism (aHUS) | heterozygous | Non-carrier | |
MCP | NG_009296 | ||||
c.12610A>G | L139L rs12126088 | Rare non-Disease Causing Polymorphism | heterozygous | Non-carrier | |
c.20790G>T | Intron rs2724374 | Polymorphism | heterozygous | Non-carrier | |
c.36158G>A | Intron rs1962149 | Polymorphism | heterozygous | Non-carrier | |
THBD | NG_012027 | ||||
c.6578C>T | A473V rs1042579 | Polymorphism | homozygous | heterozygous |