Rieger syndrome is associated with PAX6 deletion

Riise, Ruth; Storhaug, Kari; Brøndum‐Nielsen, Karen

doi:10.1034/j.1600-0420.2001.079002201.x

Cited by 63 publications

(45 citation statements)

References 14 publications

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“…10,11 A third locus was suggested by deletion of 13q14, supported by linkage analyses, but a disease-causing gene has not been identified yet. 12,13 In two isolated cases, deletion of the 16q23-q24 region 14 and deletion of the PAX6 gene at 11p13, 15 respectively, were related to ARS, but these findings were not supported by other studies. In B60% of patients the genetic defect in ARS is not known (not caused by mutation of an already identified gene).…”

Section: Genetic Basis Of Arscontrasting

confidence: 47%

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

2009

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In association withAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations Axenfeld -Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.

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Section: Genetic Basis Of Arscontrasting

confidence: 47%

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

2009

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“…A child with bilateral Peters' anomaly had a deletion of WT1 and PAX6 (24) and a child with congenital bilateral microphthalmia and severe anterior segment dysgenesis who later developed Wilms tumor had a deletion of 11p13-15.1 (37). A child with sporadic Rieger syndrome, including typical dental and maxillary anomalies, had a PAX6 deletion (38). Since PAX6 is not expressed in the developing teeth or maxilla, this individual may also have a mutation of PITX2, the Rieger syndrome gene, at 14q25 (39).…”

Section: Aniridia As Part Of the Wagr Syndromementioning

confidence: 99%

PAX6 and Congenital Eye Malformations

Hanson

2003

Pediatr Res

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The PAX6 gene is a paradigm for our understanding of the molecular genetics of mammalian eye development. Twelve years after its identification it is one of the most intensively studied genes, both in terms of its diverse and complex functions during oculogenesis and its role in an ever-increasing variety of human congenital eye malformations. The PAX6 field has benefited greatly from the continued input of clinicians, human geneticists and developmental biologists. This review summarizes the latest data on the PAX6 mutation spectrum and recent PAX6 was identified as a candidate aniridia gene during the search for the genes responsible for the WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation), which is caused by hemizygous deletions of 11p13 (1). Heterozygous intragenic mutations were subsequently described in many nonsyndromic aniridia cases, confirming PAX6 as the aniridia gene (2-5). At the same time Pax6 mutations were found in the classical mouse microphthalmia mutant small eye (6).The PAX6 protein is a transcriptional regulator with two highly conserved DNA binding domains, a paired domain and a homeodomain (1, 3, 7, 8; Fig. 1). The homeodomain is followed by a proline, serine, and threonine-rich transactivation domain (9). The last 30 amino acids constitute a highly conserved C-terminal peptide that modulates DNA binding by the homeodomain (10). THE SPECTRUM OF HUMAN PAX6 MUTATIONSMolecular analyses of WAGR syndrome cases showed that aniridia can be caused by deletion of one copy of PAX6 (1, 11).

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“…4 However, mutations in the PITX2 gene are not the sole cause of ASD; at least four other gene loci have been identified on 6p25, 13q14 and 16q24, and 11p13. [5][6][7] The genes FOXC1 and PAX6 at 6p25, and 11p13 respectively have been identified, 8,9 but the others remain elusive. Nonetheless, these and other studies have firmly established the fact that is ASD genetically heterogeneous (Table 1); more than one gene causes the 10 but now known to underlie a range of other ocular conditions 11 including Peters anomaly and a rare case of ARS.…”

Section: Classification Of Asdmentioning

confidence: 99%

“…Nonetheless, these and other studies have firmly established the fact that is ASD genetically heterogeneous (Table 1); more than one gene causes the 10 but now known to underlie a range of other ocular conditions 11 including Peters anomaly and a rare case of ARS. 7,12,13 As well as causing ARS, PITX2, and FOXC1 mutations have been demonstrated in cases of Peters anomaly and primary congenital glaucoma (PCG). 9,14,15 Peters anomaly has also been associated with mutations in two other genes, the CYP1B1 gene, commonly mutated in PCG and the FOXC1 related gene, FOXE3.…”

Section: Classification Of Asdmentioning

confidence: 99%

Molecular and developmental mechanisms of anterior segment dysgenesis

Sowden

2007

Eye

138

102

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Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior segment of the eye. It leads to anomalies in the structure of the mature anterior segment, associated with an increased risk of glaucoma and corneal opacity. Several different gene mutations have been identified underlying these anomalies with the majority of ASD genes encoding transcriptional regulators. In this review, the role of the ASD genes, PITX2 and FOXC1, is considered in relation to the embryology of the anterior segment, the biochemical function of these proteins, and their role in development and disease aetiology. The emerging view is that these genes act in concert to specify a population of mesenchymal progenitor cells, mainly of neural crest origin, as they migrate anteriorly around the embryonic optic cup. These same genes then regulate mesenchymal cell differentiation to give rise to distinct anterior segment tissues. Development appears critically sensitive to gene dosage, and variation in the normal level of transcription factor activity causes a range of anterior segment anomalies. Interplay between PITX2 and FOXC1 in the development of different anterior segment tissues may partly explain the phenotypic variability and the genetic heterogeneity characteristic of ASD.

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Rieger syndrome is associated with PAX6 deletion

Cited by 63 publications

References 14 publications

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

PAX6 and Congenital Eye Malformations

Molecular and developmental mechanisms of anterior segment dysgenesis

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