A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature

Medicine (Baltimore). 2020 Jan;99(4):e18887. doi: 10.1097/MD.0000000000018887.


Introduction: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is responsible for encoding nonmuscle myosin heavy chains IIA (NMMHCIIA). MYH9-RD is clinically characterized by congenital macrothrombocytopenia, granulocyte inclusions variably associated with the risk of developing progressive sensorineural deafness, cataracts and nephropathy.

Patient concerns: A 5-year-old boy had a history of a mild bleeding tendency and chronic thrombocytopenia, first identified at four months of age. No other family members were noted to have similar clinical features or hematologic disorders.

Diagnoses: The boy was diagnosed with MYH9-RD. Light microscopic examination of peripheral blood films (Wright-Giemsa stain) showed marked platelet macrocytosis with giant platelets and basophilic Döhle-like inclusions in 83% of the neutrophils. Immunofluorescence analysis disclosed a type II pattern, manifested by neutrophils which contained several circle-to-oval shaped cytoplasmic NMMMHCA-positive granules. Sequencing analysis of MYH9-RD genes was carried out and revealed a novel missense mutation of c.97T>G (p.W33G) in the patient but not in his parents.

Intervention: No treatment is necessary. Recognition of MYH9-RD is important to Avoiding unnecessary and potentially harmful treatments.

Outcomes: The patient's condition remained stable during the follow-up.

Conclusions: As a result of identifying this missense mutation in this particular case, we have added c.97T>G (p.W33G) to the broad spectrum of potential MYH9 mutations.

MeSH terms

  • Child, Preschool
  • Fluorescent Antibody Technique
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mutation, Missense
  • Neutrophils / pathology
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics

Supplementary concepts

  • MYH9-Related Disorders