Mutations and phenotypes of patients with MYH9-RD
Patient no. . | Mutation . | Macro-thrombocytopenia . | Döhle bodies . | Hearing loss . | Nephritis . | Cataracts . |
---|---|---|---|---|---|---|
P1 | S96L | Y | N | N | Y | N |
P2 | T1155I | Y | Y | Y | Y | Y |
P3 | R1400W | Y | ND | N | N | N |
P4 | D1424N | Y | ND | N | N | N |
P5 | D1424N | Y | ND | Y | N | N |
P6 | D1424N | Y | Y | N | N | N |
P7 | 5779delC | Y | ND | N | N | N |
P8 | E1945x | Y | Y | N | N | N |
Patient no. . | Mutation . | Macro-thrombocytopenia . | Döhle bodies . | Hearing loss . | Nephritis . | Cataracts . |
---|---|---|---|---|---|---|
P1 | S96L | Y | N | N | Y | N |
P2 | T1155I | Y | Y | Y | Y | Y |
P3 | R1400W | Y | ND | N | N | N |
P4 | D1424N | Y | ND | N | N | N |
P5 | D1424N | Y | ND | Y | N | N |
P6 | D1424N | Y | Y | N | N | N |
P7 | 5779delC | Y | ND | N | N | N |
P8 | E1945x | Y | Y | N | N | N |
The position of the mutation for each patient with MYH9-RD is listed, along with the symptoms present or absent.
ND indicates not determined.