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Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing

Yang, Eu Jeen MD*; Park, Kyung Mi MD*; Kim, Yoo-Mi MD*; Jung, Ki Sun MD; Lim, Young Tak MD*; Cheon, Chong Kun MD*

Journal of Pediatric Hematology/Oncology: February 01, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001430
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May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder caused by a mutation in the myosin heavy chain 9 (MYH9) gene. MHA patients have variable clinical manifestations including thrombocytopenia, renal injury, hearing impairment, and cataracts. We describe a 25-year-old man with isolated thrombocytopenia initially. He experienced recurrent seizures with stable thrombocytopenia after the first seizures related to intracranial hemorrhage. He was identified a novel c.3452C>T mutation by targeted exome sequencing. If a patient with thrombocytopenia shows recurrent seizures as well as renal, hearing, visual symptoms, MHA should be suspected and the targeted exome sequencing is considered an effective diagnostic tool.

Departments of *Pediatrics

Internal Medicine, Division of Hematology-Oncology, Pusan National University Yangsan Hospital, Yangsan, Korea

The authors declare no conflict of interest.

Reprints: Chong Kun Cheon, MD, Department of Pediatrics, Pusan National University Children’s Hospital, 20 Geumo-ro, Meulgeum-eup, Yangsan-si, Gyeongsangnam-do, 626-770, Korea (e-mail: chongkun@pusan.ac.kr).

Received July 12, 2018

Accepted January 5, 2019

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