MYH9 and Nephropathy: It is characterized by congenitalmacrothrombocytopenia, bleeding tendency, hearing loss, and cataracts.Nephropathy occurs in approximately 30% of MYH9-related disease in a malepatient carrier of a de novo missense mutation in exon 1 of theMYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu].