Table 1 Essential clinical features of 10 MYH9 -RD patients who received cochlear implant
From: Cochlear implantation is safe and effective in patients with MYH9-related disease
Patient/family | Age1/gender | Inheritance | NMMHC-IIA mutation (domain)2 | Leukocyte inclusions, MGG/IF | Platelet count ×109/L, automated/ microscopic | Spontaneous bleeding WHO3(type of bleeding) | Kidney involvement | Cataract | Other relevant information | Ref. |
|---|---|---|---|---|---|---|---|---|---|---|
1/1 | 34/F | Sporadic | p.R702C (HD) | Yes/Yes | 8/14 | 2 (easy bruising, menorrhagia) | Kidney transplantation | No | Chronic immunosuppressive drugs administration4 | A |
2/2 | 40/M | Sporadic | p.R702C (HD) | No/Yes | 24/31 | 1 (easy bruising) | Nephrotic range proteinuria, CRF | No | Previous splenectomy; history of recurrent otitis media (bilateral); HCV hepatitis | A |
3/3 | 43/M | Sporadic | p.R702S (HD) | No/Yes | 21/25 | 2 (easy bruising, epistaxis) | Proteinuria | No | Previous splenectomy; history of chronic otitis media (bilateral) | A |
4/4 | 72/M | AD | p.A95D (HD) | Yes/Yes | 70/nd | 0 | No | No | History of chronic otitis media (left ear) with TM perforation | A |
5/5 | 27/F | AD | p.D1424Y (TD) | Yes/Yes | 10/80 | 0 | No | No | None | A |
6/6 | 50/F | AD | p.W33R (HD) | Yes/Yes | 19/nd | 1 (easy bruising) | No | No | None | B |
7/7 | 12/M | AD | p.R705H (HD) | Yes/Yes | 96/nd | 0 | No | No | None | C |
8/7 | 30/F | AD | p.R705H (HD) | Yes/Yes | 115/nd | 1 (easy bruising) | No | No | None | C |
9/7 | 46/F | AD | p.R705H (HD) | Yes/Yes | 142/nd | 1 (easy bruising) | No | No | None | C |
10/8 | 54/F | AD | p.D1424N (TD) | Yes/Yes | 39/nd | 2 (easy bruising, menorrhagia) | No | No | None | D |