Die Axenfeld-Rieger Anomalie ist eine autosomal dominante Erkrankung, die durch mutationen im FOXC1-Gen ausgelöst wird. Zu dieser Erkrankung gehören neben Augenveänderungen, wie Irisdysgenesie und Weitwinkelglaukom, auch Knochenveränderungen in Bereich des Schädels.
Hereditäres Glaucom | ||||
Axenfeld-Rieger Anomalie | ||||
FOXC1 | ||||
Modifikatoren der Glaukomausprägung | ||||
Nagel-Patella-Syndrom | ||||
OPA1 | ||||
Weitwinkelglaukom 1 | ||||
Weitwinkelglaukom 3 | ||||
1. |
Gould DB et al. (1997) Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. |
2. |
None (2007) Molecular and developmental mechanisms of anterior segment dysgenesis. |
3. |
Strungaru MH et al. (2007) Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. |
4. |
Grosso S et al. (2002) Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? |
5. |
Gould DB et al. (2002) Anterior segment dysgenesis and the developmental glaucomas are complex traits. |
6. |
Baruch AC et al. (2001) Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8). |
7. |
None (2000) Axenfeld-Rieger syndrome in the age of molecular genetics. |
8. |
Cunningham ET et al. (1998) Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. |
9. |
Aldinger KA et al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. |
10. |
Chanda B et al. (2008) A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. |
11. |
Weisschuh N et al. (2008) A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. |
12. |
Ito YA et al. (2007) Analyses of a novel L130F missense mutation in FOXC1. |
13. |
Honkanen RA et al. (2003) A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. |
14. |
Lehmann OJ et al. (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. |
15. |
Nishimura DY et al. (2001) A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. |
16. |
Mirzayans F et al. (2000) Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. |
17. |
Mears AJ et al. (1998) Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. |
18. |
Nishimura DY et al. (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. |
19. |
Davies AF et al. (1999) An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development. |
20. |
OMIM.ORG article Omim 602482 |