Klinik: 

Definition: Mutationen des MYH9-Gens manifestieren sich in verschiedenen Organsystemen. Zu den Symptomen der assoziierten autosomal dominanten Erkrankungen gehören Schwerhörigkeit, Blutbildveränderungen und eine hereditäre Nephritis.

Klinisches Bild: 

	Makro-thrombo-zytopenie	Leukocyten- einschlüsse	Nephritis	Perzeptions-Schwerhörigkeit	Kataract
May-Hegglin-Anomalie	+	Dohle-Körperchen
Sebastian-Syndrom	+	+
Epstein-Syndrom	+		+	+
Fechtner-Syndrom	+	+	+	+	+
Autosomal dominante nichtsyndromale Innenohrschwerhörigkeit 17				+

Diagnostik: 

Differentialdiagnosen: Das Bernard-Soulier-Syndrom ist eine ebenfalls autosomal dominante Erkrankung, aber eine reine Makrothrombozytopenie ohne Beteiligung anderer Blutzellinien oder Organe.  » » » 

Literatur: 

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.