A Nonsense C5797T (R1933X) Mutation of MYH9 Gene in a Family with May-Hegglin Anomaly.
- Author:
Kyung Soon SONG
1
;
Jong Rak CHOI
;
Jae Woo SONG
;
Sung Kyu HA
Author Information
1. Department of Clincial Pathology, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Macrothrombocytopenia;
May-Hegglin anomaly;
Myosin;
Inclusion body
- MeSH:
Amino Acids;
Humans;
Inclusion Bodies;
Korea;
Leukocytes;
Myosin Heavy Chains;
Myosins
- From:Korean Journal of Hematology
2001;36(3):253-256
- CountryRepublic of Korea
- Language:Korean
-
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.
