Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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2.

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

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3.

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

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4.

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

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5.

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.

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6.

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

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7.

Honkanen RA et. al. (2003) A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

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8.

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

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9.

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

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10.

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

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11.

Aldinger KA et. al. (2009) FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

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12.

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

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13.

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.

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14.

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

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15.

Baruch AC et. al. (2001) Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8).

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16.

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

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17.

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

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18.

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

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19.

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

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