SHORT COMMUNICATIONConstruction and Analysis of a Sequence-Ready Map in 4q25: Rieger Syndrome Can Be Caused by Haploinsufficiency ofRIEG, but Also by Chromosome Breaks ≈90 kb Upstream of This Gene
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Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies
2019, Experimental Eye ResearchCitation Excerpt :Furthermore, phenotypic severity is so variable that it is likely that ARS is under reported. PITX2 mutations outside of the coding region have also been identified which would likely be missed by exon sequencing techniques (Flomen et al., 1998; Maciolek et al., 2006). However, some of the largest screens of ARS patients have estimated mutations in PITX2 and FOXC1 explain 40–63% of ARS (32/80 in (D'Haene et al., 2011), 24/38 in (Reis et al., 2012)).
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
2017, American Journal of Human GeneticsCitation Excerpt :In humans, BCAs can induce position effects through disruption of a gene’s long-range transcriptional control (i.e., enhancer-promoter interactions, insulator influence, etc.) or its placement in regions with different local chromatin environments, as observed in the classical Drosophila position-effect variegation.19,21,22 Examples of position-effect genes include paired box gene 6 (PAX6 [MIM: 607108]), for which downstream chromosomal translocations affect its cis-regulatory control and produce aniridia (MIM: 106210);23,24 twist family bHLH transcription factor 1 (TWIST1 [MIM: 601622]), where downstream translocations and inversions are associated with Saethre-Chotzen syndrome (MIM: 101400);25 paired-like homeodomain 2 (PITX2 [MIM: 601542]), for which translocations are associated with Axenfeld-Rieger syndrome type 1 (MIM: 180500);26,27 and SRY-box 9 (SOX9 [MIM: 608160]), where translocation breakpoints located up to 900 kb upstream and 1.3 Mb downstream are associated with campomelic dysplasia (MIM: 114290);28 as well as several others.19,29,30 The availability of genome sequencing in the clinical setting has generated a need for rapid prediction and interpretation of structural variants, especially those pertaining to de novo non-coding rearrangements in individual subjects.
Chapter 13 Long-Range Gene Control and Genetic Disease
2008, Advances in GeneticsCitation Excerpt :The main RIEG locus is mapped to chromosome 4q25–27, and mutations in PITX2, a paired‐related homeobox gene with multiple isoforms, have been shown to cause Rieger syndrome (Alward et al., 1998). In addition to deletions and mutations in the gene itself, translocation breakpoints 15 and 90 kb upstream of PITX2 have been identified in three separate patients (Flomen et al., 1998; Trembath et al., 2004). Hypoparathyroidism (HPT) is an endocrine disorder due to deficiency of parathyroid hormone (PTH) leading to hypocalcemia and hyperphosphatemia.
A Review of Anterior Segment Dysgeneses
2006, Survey of OphthalmologyCitation Excerpt :Autosomal dominant inheritance has been identified in Axenfeld-Rieger anomaly and syndrome for many years.113 There is considerable genetic heterogeneity of Axenfeld-Rieger as suggested by affected individuals having a variety of chromosomal abnormalities, which include deletions of chromosomes 438 and 1398 and the failure to find linkage to 4q25 in one pedigree.70 Deletion of 13q14 was described in two cases.2,119
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome
2024, American Journal of Medical Genetics, Part A
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