Korean J Hematol.
2001 Aug;36(3):253-256.
A Nonsense C5797T (R1933X) Mutation of MYH9 Gene in a Family with May-Hegglin Anomaly
- Affiliations
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- 1Department of Clincial Pathology, Yonsei University College of Medicine, Seoul, Korea.
- 2Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
Abstract
- May-Hegglin anomaly (MHA) is an autosomal dominant disorder characterized by macrothrombocytopenia and leukocyte inclusions. In 1992, we reported the first Korean case of MHA family. Again, in this family, we identified a nonsense C5797T mutation (R1933X) in the MYH9 gene, encoding non-muscle myosin heavy chain A. To the best of our knowledge, our genetic study in this MHA family is the first report of mutation resulting in the truncation of 28 of 34 amino acids of the carboxy-terminal tailpiece of the myosin heavy chain in Korea.
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