Analysis of the MYH9 gene by PCR amplification and sequencing of the coding region and splice junctions.
MYH9-Related Disorders (MYH9-RD) are a spectrum of autosomal dominant macrothrombocytopenias, often with leukocyte inclusions (Döhle bodies). Prior to the identification of MYH9 as the gene responsible, patients were diagnosed as having May-Hegglin Anomaly, Sebastian Syndrome, Epstein Syndrome or Fetchner Syndrome dependent on the clinical phenotype e.g. sensorineural hearing loss, glomerulonephritis or presenile cataract.
There is some genotype-phenotpye correlation in that mutations in the motor domain tend to have a more severe thrombocytopenia and higher risk of non-haematological abnormalities than those in the tail domain.
Synonyms or keywords:
MYH9 related disease