ReviewBMC medical genomics2026
A case report of a family with MYH9 gene mutation-related disease in an ethnic minority group and literature review.
Review in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMay-Hegglin anomaly, a rare autosomal dominant disorder caused by MYH9 mutations, is characterized by the classic "triad" of thrombocytopenia, giant platelets, and granulocyte cytoplasmic inclusion bodies; some patients also present non-hematological symptoms.
resultsWe reported a family of MYH9-related disease. The proband had microscopic hematuria, proteinuria, and thrombocytopenia on physical examination; blood smear re-examination showed giant platelets and Döhle-like bodies. His medical history included childhood epistaxis; his father had unexplained thrombocytopenia/proteinuria, and his younger brother had epistaxis/purpura/thrombocytopenia. Whole-exome sequencing (validated by Sanger sequencing) confirmed the diagnosis.
conclusionsDiagnosis of MYH9-related diseases depends on combined laboratory morphology and molecular biology. Routine blood tests and smear microscopy (identifying abnormal giant platelets/Döhle-like bodies) provide initial screening clues, while gene sequencing enables accurate diagnosis and pathogenesis clarification, forming a complete screening-to-confirmation diagnostic pathway.
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