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J Pediatr Hematol Oncol. 2018 Jan;40(1):76-78. doi: 10.1097/MPH.0000000000000998.

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

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Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba.
Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.


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 nonhematological complications.

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