Yonsei Med J.  2012 May;53(3):662-666. 10.3349/ymj.2012.53.3.662.

A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly

• Jang MJ
• Park HJ
• Chong SY
• Huh JY
• Kim IH
• Jang JH
• Kim HJ
• Oh D

• KMID: 1777006
• DOI: http://doi.org/10.3349/ymj.2012.53.3.662

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.

Keyword

May-Hegglin anomaly; MYH9; thrombocytopenia; Korean

MeSH Terms

Adult
Asian Continental Ancestry Group
Exons/*genetics
Humans
Male
Molecular Motor Proteins/*genetics
Mutation
Myosin Heavy Chains/*genetics
Thrombocytopenia/*genetics
Young Adult

Figure

• 

  Fig. 1 (A) The pedigree of the patient (arrow). (B) The results of direct sequencing of MYH9 in the proband and family members. The proband was heterozygous for a missense mutation, c.97T>A, p.Trp33Arg. His parents did not have the mutation, indicating a de novo occurrence of the mutation in the proband. His brother was also homozygous for the wild-type sequence, as were his parents.

• 

  Fig. 2 (A) Cytoplasmic inclusion in neutrophils (Wright-Giemsa ×1000). (B) Diffuse granular pattern of fluorescence signals from anti-NMMHC-A antibody in neutrophils.

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