A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly
Yonsei Medical Journal
;
: 662-666, 2012.
Artigo
em Inglês
| WPRIM
| ID: wpr-22412
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trombocitopenia
/
Éxons
/
Cadeias Pesadas de Miosina
/
Proteínas Motores Moleculares
/
Povo Asiático
/
Mutação
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2012
Tipo de documento:
Artigo
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