A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts
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MYH9 disorders are autosomal dominant disorders, characterized by macrothrombocytopenia and granulocyte inclusion bodies, and include May–Hegglin anomaly (MHA), Sebastian syndrome (SBS), Fechtner syndrome (FTNS), and Epstein syndrome (EPTS). These disorders are caused by mutations in MYH9, which codes for the nonmuscle myosin heavy chain IIA (NMMHC-IIA) [1, 2, 3, 4, 5, 6]. It has been reported that patients with MYH9 disorder with mutations in the rod domain (such as E1841K mutation) have mild thrombocytopenia and a lower risk of developing hearing or kidney impairment as MHA or SBS, whereas mutations in the head domain are frequently additionally associated with non-hematological complications as FTNS and EPTS . Here, we describe a large Chinese family with E1841K mutation in MYH9 disorders, clinically diagnosed as FTNS, in which the proband had serious kidney and progressive sensorineural hearing impairment and cataracts.
KeywordsCataract Hearing Impairment Focal Segmental Glomerulosclerosis E1841K Mutation Nonmuscle Myosin