Novel frameshift mutation in MYH9 presenting with congenital thrombocytopenia: a paediatric case report with familial implications

Background: MYH9 -related disease (MYH9-RD) is a rare autosomal dominant condition caused by pathogenic variants in MYH9 . 1 This gene encodes the widely expressed cytoskeletal motor protein component, non-muscle myosin heavy chain IIA (NMMHC-IIA). 1 Characteristic findings include macrothrombocytopenia, neutrophil inclusions, and variable occurrence of extra-haematological manifestations. 1 Misdiagnosis is common and can delay appropriate management.