A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly.
10.3349/ymj.2012.53.3.662
- Author:
Moon Ju JANG
1
;
Hyun Jeong PARK
;
So Young CHONG
;
Ji Young HUH
;
In Ho KIM
;
Ja Hyun JANG
;
Hee Jin KIM
;
Doyeun OH
Author Information
1. Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Korea. doh@cha.ac.kr
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
May-Hegglin anomaly;
MYH9;
thrombocytopenia;
Korean
- MeSH:
Adult;
Asian Continental Ancestry Group;
Exons/*genetics;
Humans;
Male;
Molecular Motor Proteins/*genetics;
Mutation;
Myosin Heavy Chains/*genetics;
Thrombocytopenia/*genetics;
Young Adult
- From:Yonsei Medical Journal
2012;53(3):662-666
- CountryRepublic of Korea
- Language:English
-
Abstract:
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/mm3; however, the neutrophils contained abnormal basophilic inclusions in their cytoplasm. The platelet count was decreased at 15000/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.
