期刊
YONSEI MEDICAL JOURNAL
卷 53, 期 3, 页码 662-666出版社
YONSEI UNIV COLL MEDICINE
DOI: 10.3349/ymj.2012.53.3.662
关键词
May-Hegglin anomaly; MYH9; thrombocytopenia; Korean
资金
- Korea Research Foundation [KRF-2008-313-E00281]
- National Research Foundation of Korea [2008-313-E00281] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
In 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/mm(3); however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15000/mm(3) 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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