Table 1.
Main clinical and molecular features of nine MYH9-RD patients with five novel MYH9 mutations.
| Family/patient | Age/gender | Platelet count (×109/L)a | Giant platelets/leukocyte inclusionsb | Bleeding timec | Bleeding diathesis | Proteinuria/renal failure | Sensorineural hearing lossd | Cataracte | Mutationf |
|---|---|---|---|---|---|---|---|---|---|
| 1/I-1 | 52/F | 30 | Yes/yes | Normal | None | No/no | Bilateral | No | c.101T > G (p.Val34Gly) |
| 1/I-2 | 59/F | 40 | Yes/yes | Normal | None | No/no | Bilateral | Bilateral | |
| 1/II-1 | 11/M | 72 | Yes/yes | Normal | None | No/no | No | No | |
| 2/II-1 | 44/M | 25 | Yes/yes | Increased | Easy bruising, epistaxis, bleeding after teeth extraction | Yes/no | Bilateral | No | c.2104C > A (p.Arg702Ser) |
| 3/I-2 | 33/F | 85 | Yes/yes | nd | Easy bruising, menorrhagia, epistaxis | No/no | No | No | c.2539_2559dup (p.Met847_Glu853dup) |
| 3/II-1 | 2/M | 96 | Yes/yes | nd | None | No/no | No | nd | |
| 4/I-1 | 43/M | 116 | Yes/yes | Increased | Easy bruising, gum bleeding | No/no | Bilateral (mild) | No | c.3142_3162del (p.Lys1048_Glu1054del) |
| 4/II-1 | 8/F | 123 | Yes/yes | Increased | Epistaxis, bleeding after surgery and loss of one milk tooth | No/no | No | No | |
| 5/I-1 | 20/F | 65 | Yes/yes | nd | Easy bruising, epistaxis | No/no | No | No | c.4339G > T (p.Asp1447Tyr) |
nd, not determined.
a
Assessed by phase contrast microscopy. In MYH9-RD, the actual platelet count can be determined only by microscopic counting because automatic cell counters do not recognize giant platelets and therefore greatly underestimate platelet count (ref. [1]).
b
Evaluated by examination of peripheral blood smears.
c
Evaluated according to the Ivy method.
d
Evaluated by audiometric examination.
e
Evaluated by ophthalmological examination.
f
Nucleotide A of the ATG translation initiation start site of the MYH9 cDNA (GenBank sequence NM_002473.3) is indicated as nucleotide +1.