The common cause of several autosomal dominant diseases is an altered myosin heavy chain, which is an essential constituent of the cytoskeleton. Depending on the type of mutation different pathological findings might be present. Nephropathy, resembling Alport syndrome, deafness, and haematological findings, such as leukocyte inclusions and thrombocytopenia with giant platelets, might be present.
Heath KE et al. (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.[^]
Seri M et al. (2002) Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.[^]
OMIM.ORG articleOmim 153650 [^]
Orphanet articleOrphanet ID 1019 [^]
Wikipedia articleWikipedia EN (May–Hegglin_anomaly) [^]