Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma

Investigative Ophthalmology & Visual Science
Wener CellaVital Paulino Costa

Abstract

Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found to be associated with Peters' anomaly, and the gene associated with oculodentodigital dysplasia syndrome, which presents some similarities with AR, was identified (connexin 43--GJA1 gene). The purpose of this study was to evaluate PITX2, FOXC1, CYP1B1, and GJA1 gene mutations in Brazilian families with AR. Eight unrelated patients affected by AR (all eight with glaucoma and three with systemic manifestations) and their families were ophthalmologically evaluated and their blood was collected for DNA extraction purposes. The coding regions of PITX2, FOXC1, CYP1B1, and GJA1 genes were completely evaluated through direct sequencing. The frequency of mutations in the FOXC1, GJA1, PITX2, and CYP1B1 genes in this study were 25%, 12.5%, 0% and 0%, respectively. In the FOXC1 gene, two GGC triplet insertions (GGC375ins and GGC447ins) defined as a polymorp...Continue Reading

Citations

Apr 17, 2008·Journal of Glaucoma·Juan Carlos ZentenoJose Elias Garcia-Ortiz
Jul 22, 2008·Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies·Marija MihelecRobyn V Jamieson
Nov 13, 2012·International Journal of Pediatric Otorhinolaryngology·Daniz KooshavarMorteza Hashemzadeh-Chaleshtori
Oct 27, 2009·Trends in Endocrinology and Metabolism : TEM·Christopher J RomeroSally Radovick
Jul 5, 2008·European Journal of Medical Genetics·Isabelle Bailleul-ForestierAlain Verloes
Jun 21, 2013·Pediatrics International : Official Journal of the Japan Pediatric Society·Takaya NakaneKanji Sugita
Mar 30, 2019·Molecular Genetics & Genomic Medicine·Changxing LiXibao Zhang
Mar 20, 2018·Oncotarget·Jinhua WangGuanhua Du
May 14, 2020·Molecular Genetics & Genomic Medicine·Valeria Lo FaroShazia Micheal

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