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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/
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
  1. Notes: 1 = age at time of cochlear implant. 2= NMMHC-IIA domain affected by mutation. 3 = according to WHO bleeding scale: grade 0, no bleeding; grade 1, only cutaneous bleeding; grade 2, mild blood loss; grade 3, gross blood loss, requiring transfusion; grade 4, debilitating blood loss, retinal or cerebral associated with fatality. 4 = immunosuppressive treatments (tacrolimus, mycophenolate mofetil, and steroids) for previous kidney transplantation.
  2. Abbreviations: NMMHC-IIA non-muscle myosin heavy chain IIA, HD head domain, TD tail domain, ref. reference, for previously reported patients, AD autosomal-dominant, CRF chronic renal failure, TM tympanic membrane, nd not determined.
  3. References: A = Pecci et al., [8]. B = Saposnik et al., [20]. C = Verver et al., [21] D = Greinacher et al. [22].