Macrothrombocytopenia With Congenital Bilateral Cataracts: A Phenotype of MYH9 Disorder With Exon 24 Indel Mutations

作者：Aoki Takahiro^*; Kunishima Shinji; Yamashita Yoshiharu; Minamitani Kanshi; Ota Setsuo

来源：Journal of Pediatric Hematology/Oncology, 2018, 40(1): 76-78.

• MYH9 disorder
• inherited thrombocytopenia
• congenital cataracts

MYH9 disorder is characterized by large platelets and granulocyte inclusion bodies, and can be complicated with young-adult onsets of nephropathy, sensorineural hearing loss, and cataracts. Congenital cataracts in patients with MYH9 disorder is rare, and their etiology has not been elucidated. We report a 3-year-old patient with MYH9 disorder who had a p.E1066_A1072del mutation and developed cataracts congenitally. A review of the literature reveals that patients with an MYH9 exon 24 indel mutation, including p. E1066_A1072del, are susceptible to developing congenital cataracts and should be followed closely for other non-hematological complications.

• 出版日期2018-1