Mutationen des MYH9-Gens manifestieren sich in verschiedenen Organsystemen. Zu den Symptomen der assoziierten autosomal dominanten Erkrankungen gehören Schwerhörigkeit, Blutbildveränderungen und eine hereditäre Nephritis.
Erkrankung | Makrothrombozytämie | Leukozyteneinschlüsse | Nephritis | Innenohrschwerhörigkeit | Katarakt |
---|---|---|---|---|---|
May-Hegglin Anomalie | + | Döhlekörperchen | |||
Sebastian-Syndrom | + | + | |||
Epstein-Syndrom | + | + | + | ||
Fechtner-Syndrom | + | + | + | + | + |
Nichtsyndromale Innenohrschwerhörigkeit 17 | + |
Schwerhörigkeit | |
Bei MYH9-Mutationen kommt es zu einer Innenohrschwerhörigkeit. |
2. |
Lalwani AK et al. (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. |
3. |
Brodie HA et al. (1992) Macrothrombocytopenia and progressive deafness: a new genetic syndrome. |
4. |
Peterson LC et al. (1985) Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. |
5. |
Gershoni-Baruch R et al. (1988) Fechtner syndrome: clinical and genetic aspects. |
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. |
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. |
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. |
9. |
Lalwani AK et al. () A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. |
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. |
11. |
Orphanet article Orphanet ID 182050 |
12. |
OMIM.ORG article Omim 603622 |
13. |
Wikipedia Artikel Wikipedia DE (Fechtner-Syndrom) |