Novel CYP1B1 and Known PAX6 Mutations in Anterior Segment Dysgenesis (ASD)

Chavarría-Soley, Gabriela; Michels-Rautenstrauss, Karin; Caliebe, Almuth; Kautza, Monika; Mardin, Christian Y.; Rautenstrauß, Bernd

doi:10.1097/01.ijg.0000243467.28590.6a

Cited by 32 publications

(15 citation statements)

References 26 publications

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“…There is one study that describes 2 unrelated German children with Axenfeld-Reiger spectrum anterior segment dysgenesis and underlying compound heterozygous CYP1B1 mutations, both of whom had normal analysis of PAX6, FOXC1, and PITX2. 25 In the current study, a sibling of an affected proband had iris coloboma, juvenile onset glaucoma, and CYP1B1 mutation ( Figure 2). …”

Section: Discussionmentioning

confidence: 93%

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Khan

Aldahmesh

AlAbdi

et al. 2011

Ophthalmic Genetics

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Newborn glaucoma on the Arabian Peninsula is typically CYP1B1-related even in the setting of developmental iris abnormality. Mild iris ectropion with partial aniridia in a newborn with glaucoma suggests mutations in CYP1B1 rather than in other genes associated with anterior segment dysgenesis. On the Arabian Peninsula p.G61E mutations are the major cause of newborn glaucoma but novel CYP1B1 mutations continue to be documented. The fact that the 9% of cases that were CYP1B1-negative did not have mutations in LTBP2 suggests that there exists at least 1 additional locus for this condition.

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Section: Discussionmentioning

confidence: 93%

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

Khan

Aldahmesh

AlAbdi

et al. 2011

Ophthalmic Genetics

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“…Several reports have identified mutations in patients with isolated Peters or Axenfeld-Rieger anomaly, typically in association with glaucoma [83-86]. Three out of 11 patients with anterior segment defects had only a single heterozygous mutation identified, suggesting that there may be a second mutation in a CYP1B1 regulatory region that is yet to be identified, or a mutation in a second gene which contributes to the phenotype, as has been reported for CYP1B1 and MYOC in primary congenital and juvenile onset glaucoma [87-89].…”

Section: Autosomal Recessive Anterior Segment Dysgenesesmentioning

confidence: 99%

Genetics of anterior segment dysgenesis disorders

Reis

Semina

2011

Current Opinion in Ophthalmology

135

123

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Purpose of review Anterior segment dysgenesis (ASD) disorders encompass a spectrum of developmental conditions affecting the cornea, iris, and lens and are generally associated with an approximate 50% risk for glaucoma. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. This article summarizes what is known about the genetics of ASD disorders and reviews recent developments. Recent findings Mutations in Collagen 4A1 (COL4A1) and Beta-1,3-glucosyltransferase (B3GALTL) have been reported in ASD patients. Novel findings in other well-known ocular genes are also presented, among which regulatory region deletions in PAX6 and PITX2 are most notable. Summary Although a number of genetic causes have been identified, many ASD conditions are still awaiting genetic elucidation. The majority of characterized ASD genes encode transcription factors, several factors represent extracellular matrix related proteins. All of the involved genes play active roles in ocular development and demonstrate conserved functions across species. The use of novel technologies, such as whole genome sequencing/comparative genomic hybridization, is likely to broaden the mutation spectrums in known genes and assist in the identification of novel causative genes as well as modifiers explaining the phenotypic variability of ASD conditions.

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“…[8][9][10] Many different mutations have been identified in the PAX6 gene, and there is a great deal of variability of ocular phenotypes among patients with aniridia, even within the same family. [9][10][11][12] The PAX6 gene is in close proximity to the WT1 gene (Wilms tumor predisposition); therefore, patients with a deletion in chromosome 11p13 must be screened frequently for Wilms tumor. 1 PAX6 mutations have also been linked to other developmental malformations in the eye, including Peters anomaly, anterior segment dysgenesis syndromes, and isolated foveal hypoplasia.…”

Section: Clinical Featuresmentioning

confidence: 99%