Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness

Eur J Haematol. 2005 Jan;74(1):1-5. doi: 10.1111/j.1600-0609.2004.00328.x.

Abstract

MYH9 disorders are autosomal-dominant macrothrombocytopenias with leukocyte inclusions caused by mutations in the MYH9 gene, which encodes the non-muscle myosin heavy chain-A (NMMHCA). We report a patient with an MYH9 disorder who presented with macrothrombocytopenia without leukocyte inclusions and severe bilateral sensory deafness. Conventional May-Grunwald-Giemsa staining failed to detect granulocyte cytoplasmic inclusions, whereas immunofluorescence analysis clearly demonstrated abnormal neutrophil NMMHCA localization. Genetic analyses revealed a novel heterozygous 18 base deletion in MYH9, leading to a six-amino acid in-frame deletion (N76_S81del) in NMMHCA. These results further support the usefulness of immunofluorescence analysis in differential diagnosis of MYH9 disorders.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • Deafness / genetics
  • Diagnosis, Differential
  • Genes, Dominant
  • Humans
  • Inclusion Bodies / pathology
  • Leukocytes / pathology
  • Male
  • Microscopy, Fluorescence
  • Middle Aged
  • Models, Molecular
  • Molecular Motor Proteins / chemistry
  • Molecular Motor Proteins / genetics*
  • Myosin Heavy Chains / blood*
  • Myosin Heavy Chains / chemistry
  • Myosin Heavy Chains / genetics*
  • Neutrophils / metabolism*
  • Neutrophils / pathology
  • Protein Conformation
  • Sequence Deletion
  • Sequence Homology, Amino Acid
  • Thrombocytopenia / blood*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics*

Substances

  • MYH9 protein, human
  • Molecular Motor Proteins
  • DNA
  • Myosin Heavy Chains