Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Axenfeld-Rieger Anomalie

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.

Gliederung

Hereditäres Glaucom
Axenfeld-Rieger Anomalie
FOXC1
Modifikatoren der Glaukomausprägung
Nagel-Patella-Syndrom
OPA1
Weitwinkelglaukom 1
Weitwinkelglaukom 3

Referenzen:

1.

Gould DB et al. (1997) Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

external link
2.

None (2007) Molecular and developmental mechanisms of anterior segment dysgenesis.

external link
3.

Strungaru MH et al. (2007) Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

external link
4.

Grosso S et al. (2002) Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

external link
5.

Gould DB et al. (2002) Anterior segment dysgenesis and the developmental glaucomas are complex traits.

external link
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).

external link
7.

None (2000) Axenfeld-Rieger syndrome in the age of molecular genetics.

external link
8.

Cunningham ET et al. (1998) Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.

external link
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.

external link
10.

Chanda B et al. (2008) A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.

external link
11.

Weisschuh N et al. (2008) A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.

external link
12.

Ito YA et al. (2007) Analyses of a novel L130F missense mutation in FOXC1.

external link
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.

external link
14.

Lehmann OJ et al. (2002) Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

external link
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.

external link
16.

Mirzayans F et al. (2000) Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.

external link
17.

Mears AJ et al. (1998) Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

external link
18.

Nishimura DY et al. (1998) The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

external link
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.

external link
20.

OMIM.ORG article

Omim 602482 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz