Clinical feature: 

Definition: Several organs can be affected by mutations of the MYH9 gene, with which several autosomal dominant diseases are associated. Their symptoms include hearing loss, haematological abnormalities, and hereditary nephritis.

Clinical picture: 

	Macro-thrombo-cytopenia	Leukocyte inclusions	Nephritis	Sensorineural deafness	Cataract
May-Hegglin anomaly	+	Dohle bodies
Sebastian syndrome	+	+
Epstein syndrome	+		+	+
Fechtner syndrome	+	+	+	+	+
Autosomal dominant nonsyndromic sensorineural deafness 17				+

Diagnostics: 

Differential: Bernard-Soulier syndrome is also an autosomal dominant macrothrombocytopenia but without any other affected cell lines or organs.  » » » 

Literature: 

Lalwani AK et al. (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
Lalwani AK et al. () A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.
Lalwani AK et al. (1999) A new locus for nonsyndromic hereditary hearing impairment, DFNA17, maps to chromosome 22 and represents a gene for cochleosaccular degeneration.
Brodie HA et al. (1992) Macrothrombocytopenia and progressive deafness: a new genetic syndrome.
Gershoni-Baruch R et al. (1988) Fechtner syndrome: clinical and genetic aspects.
Seri M et al. (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Peterson LC et al. (1985) Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
Toren A et al. (2000) Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.
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.
OSKI FA et al. (1962) Leukocytic inclusions--Dohle bodies--associated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature.