Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| Disorder | Macro-thrombo-cytopenia | Leukocyte inclusions | Nephritis | Sensorineural deafness | Cataract |
|---|---|---|---|---|---|
| May-Hegglin anomaly | + | Dohle bodies | |||
| Sebastian syndrome | + | + | |||
| Epstein syndrome | + | + | + | ||
| Fechtner syndrome | + | + | + | + | + |
| Nonsyndromic sensorineural deafness 17 | + |
| Deafness | |
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Sensorineural deafness is typical of MYH9 mutations. |
| 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. |
Lalwani AK et al. (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
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| 3. |
Brodie HA et al. (1992) Macrothrombocytopenia and progressive deafness: a new genetic syndrome.
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| 4. |
Peterson LC et al. (1985) Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
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| 5. |
Gershoni-Baruch R et al. (1988) Fechtner syndrome: clinical and genetic aspects.
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| 6. |
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.
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| 7. |
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.
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| 8. |
OSKI FA et al. (1962) Leukocytic inclusionsDohle bodiesassociated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature.
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| 9. |
Lalwani AK et al. () A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.
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| 10. |
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.
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| 11. |
Orphanet article Orphanet ID 182050
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| 12. |
OMIM.ORG article Omim 603622
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| 13. |
Wikipedia article Wikipedia EN (Fechtner_syndrome)
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