• Moon Ju Jang, Hyun-Jeong Park, So Young Chong, Ji Young Huh, In-Ho Kim, Ja-Hyun Jang, Hee-Jin Kim, and Doyeun Oh.
• Department of Internal Medicine, School of Medicine, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 463-712, Korea.
• Yonsei Med. J. 2012 May 1; 53 (3): 662666662-6.

AbstractIn this report, we describe a Korean patient with May-Hegglin anomaly from a mutation of the MYH9 gene. The proband was a 21-year-old man with thrombocytopenia. He did not have a bleeding tendency. His neutrophil count was normal at 7490/mm³; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15,000/mm³ with giant platelets. Coagulation test results were not remarkable. Direct sequencing of MYH9 revealed that he was heterozygous for a mutation in exon 1, which was a 97T>A substitution mutation affecting codon 33, substituting tryptophan with arginine (Trp33Arg). Family study showed that both of his parents had normal phenotype and genotypes, indicating a de novo occurrence of the mutation in the proband.

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