Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Epstein syndrome

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.

Systematic

MYH9 related disorders
Epstein syndrome
MYH9
MYH9

References:

1.

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.

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2.

Seri M et al. (2002) Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

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Update: Sept. 26, 2018