Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Alward, W. L. M., Semina, E. V., Kalenak, J. W., Heon, E., Sheth, B. P., Stone, E. M., Murray, J. C.Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am. J. Ophthal. 125: 98-100, 1998. [PubMed: 9437321] [Full Text: https://doi.org/10.1016/s0002-9394(99)80242-6\]
  2. Amendt, B. A., Sutherland, L. B., Semina, E. V., Russo, A. F.The molecular basis of Rieger syndrome: analysis of PITX2 homeodomain protein activities. J. Biol. Chem. 273: 20066-20072, 1998. [PubMed: 9685346] [Full Text: https://doi.org/10.1074/jbc.273.32.20066\]
  3. Arakawa, H., Nakamura, T., Zhadanov, A. B., Fidanza, V., Yano, T., Bullrich, F., Shimizu, M., Blechman, J., Mazo, A., Canaani, E., Croce, C. M.Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene. Proc. Nat. Acad. Sci. 95: 4573-4578, 1998. [PubMed: 9539779] [Full Text: https://doi.org/10.1073/pnas.95.8.4573\]
  4. Bentham, J., Michell, A. C., Lockstone, H., Andrew, D., Schneider, J. E., Brown, N. A., Bhattacharya, S.Maternal high-fat diet interacts with embryonic Cited2 genotype to reduce Pitx2c expression and enhance penetrance of left-right patterning defects. Hum. Molec. Genet. 19: 3394-3401, 2010. [PubMed: 20566713] [Full Text: https://doi.org/10.1093/hmg/ddq251\]
  5. Berry, F. B., Lines, M. A., Oas, J. M., Footz, T., Underhill, D. A., Gage, P. J., Walter, M. A.Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum. Molec. Genet. 15: 905-919, 2006. [PubMed: 16449236] [Full Text: https://doi.org/10.1093/hmg/ddl008\]
  6. Cox, C. J., Espinoza, H. M., McWilliams, B., Chappell, K., Morton, L., Hjalt, T. A., Semina, E. V., Amendt, B. A.Differential regulation of gene expression by PITX2 isoforms. J. Biol. Chem. 277: 25001-25010, 2002. [PubMed: 11948188] [Full Text: https://doi.org/10.1074/jbc.M201737200\]
  7. Cushman, L. J., Camper, S. A.Molecular basis of pituitary dysfunction in mouse and human. Mammalian Genome 12: 485-494, 2001. [PubMed: 11420609] [Full Text: https://doi.org/10.1007/s003350040002\]
  8. Doward, W., Perveen, R., Lloyd, I. C., Ridgway, A. E. A., Wilson, L., Black, G. C. M.A mutation in the RIEG1 gene associated with Peters' anomaly. J. Med. Genet. 36: 152-155, 1999. [PubMed: 10051017]
  9. Espinoza, H., Cox, C. J., Semina, E. V., Amendt, B. A.A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum. Molec. Genet. 11: 743-753, 2002. [PubMed: 11929847] [Full Text: https://doi.org/10.1093/hmg/11.7.743\]
  10. Evans, A. L., Gage, P. J.Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum. Molec. Genet. 14: 3347-3359, 2005. [PubMed: 16203745] [Full Text: https://doi.org/10.1093/hmg/ddi365\]
  11. Feingold, M., Shiere, F., Fogels, H. R., Donaldson, D. D.Rieger's syndrome. Pediatrics 44: 564-569, 1969. [PubMed: 5346635]
  12. Flomen, R. H., Vatcheva, R., Gorman, P. A., Baptista, P. R., Groet, J., Barisic, I., Ligutic, I., Nizetic, D.Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 47: 409-413, 1998. [PubMed: 9480756] [Full Text: https://doi.org/10.1006/geno.1997.5127\]
  13. Gage, P. J., Camper, S. A.Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum. Molec. Genet. 6: 457-464, 1997. [PubMed: 9147650] [Full Text: https://doi.org/10.1093/hmg/6.3.457\]
  14. Gore-Panter, S. R., Hsu, J., Barnard, J., Moravec, C. S., Van Wagoner, D. R., Chung, M. K., Smith, J. D.PANCR, the PITX2 adjacent noncoding RNA, is expressed in human left atria and regulates PITX2c expression. Circ. Arrhythm. Electrophysiol. 9: e003197, 2016. Note: Electronic Article. [PubMed: 26783232] [Full Text: https://doi.org/10.1161/CIRCEP.115.003197\]
  15. Gudbjartsson, D. F., Arnar, D. O., Helgadottir, A., Gretarsdottir, S., Holm, H., Sigurdsson, A., Jonasdottir, A., Baker, A., Thorleifsson, G., Kristjansson, K., Palsson, A., Blondal, T., and 28 others.Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 448: 353-357, 2007. [PubMed: 17603472] [Full Text: https://doi.org/10.1038/nature06007\]
  16. Hayashi, M., Maeda, S., Aburatani, H., Kitamura, K., Miyoshi, H., Miyazono, K., Imamura, T.Pitx2 prevents osteoblastic transdifferentiation of myoblasts by bone morphogenetic proteins. J. Biol. Chem. 283: 565-571, 2008. [PubMed: 17951577] [Full Text: https://doi.org/10.1074/jbc.M708154200\]
  17. Heon, E., Sheth, B. P., Kalenak, J. W., Sunden, S. L. F., Streb, L. M., Taylor, C. M., Alward, W. L. M., Sheffield, V. C., Stone, E. M.Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum. Molec. Genet. 4: 1435-1439, 1995. [PubMed: 7581385] [Full Text: https://doi.org/10.1093/hmg/4.8.1435\]
  18. Kamnasaran, D., O'Brien, P. C., Zackai, E. H., Muenke, M., Ferguson-Smith, M. A., Cox, D. W.Rearrangement in the PITX2 and MIOL1 genes in a patient with a t(4;14) chromosome. Europ. J. Hum. Genet. 11: 315-324, 2003. [PubMed: 12700605] [Full Text: https://doi.org/10.1038/sj.ejhg.5200963\]
  19. Kioussi, C., Briata, P., Baek, S. H., Rose, D. W., Hamblet, N. S., Herman, T., Ohgi, K. A., Lin, C., Gleiberman, A., Wang, J., Brault, V., Ruiz-Lozano, P., Nguyen, H. D., Kemler, R., Glass, C. K., Wynshaw-Boris, A., Rosenfeld, M. G.Identification of a Wnt/Dvl/beta-catenin-to-Pitx2 pathway mediating cell-type-specific proliferation during development. Cell 111: 673-685, 2002. [PubMed: 12464179] [Full Text: https://doi.org/10.1016/s0092-8674(02)01084-x\]
  20. Kozlowski, K., Walter, M. A.Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders. Hum. Molec. Genet. 9: 2131-2139, 2000. [PubMed: 10958652] [Full Text: https://doi.org/10.1093/hmg/9.14.2131\]
  21. Kulak, S. C., Kozlowski, K., Semina, E. V., Pearce, W. G., Walter, M. A.Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum. Molec. Genet. 7: 1113-1117, 1998. [PubMed: 9618168] [Full Text: https://doi.org/10.1093/hmg/7.7.1113\]
  22. Lin, C. R., Kioussi, C., O'Connell, S., Briata, P., Szeto, D., Liu, F., Izpisua-Belmonte, J. C., Rosenfeld, M. G.Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature 401: 279-282, 1999. [PubMed: 10499586] [Full Text: https://doi.org/10.1038/45803\]
  23. Lines, M. A., Kozlowski, K., Kulak, S. C., Allingham, R. R., Heon, E., Ritch, R., Levin, A. V., Shields, M. B., Damji, K. F., Newlin, A., Walter, M. A.Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest. Ophthal. Vis. Sci. 45: 828-833, 2004. [PubMed: 14985297] [Full Text: https://doi.org/10.1167/iovs.03-0309\]
  24. Lines, M. A., Kozlowski, K., Walter, M. A.Molecular genetics of Axenfeld-Rieger malformations. Hum. Molec. Genet. 11: 1177-1184, 2002. [PubMed: 12015277] [Full Text: https://doi.org/10.1093/hmg/11.10.1177\]
  25. Logan, M., Pagan-Westphal, S. M., Smith, D. M., Paganessi, L., Tabin, C. J.The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals. Cell 94: 307-317, 1998. [PubMed: 9708733] [Full Text: https://doi.org/10.1016/s0092-8674(00)81474-9\]
  26. Lozano-Velasco, E., Hernandez-Torres, F., Daimi, H., Serra, S. A., Herraiz, A., Hove-Madsen, L., Aranega, A., Franco, D.Pitx2 impairs calcium handling in a dose-dependent manner by modulating Wnt signalling. Cardiovasc. Res. 109: 55-66, 2016. [PubMed: 26243430] [Full Text: https://doi.org/10.1093/cvr/cvv207\]
  27. Lu, M.-F., Pressman, C., Dyer, R., Johnson, R. L., Martin, J. F.Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 401: 276-278, 1999. [PubMed: 10499585] [Full Text: https://doi.org/10.1038/45797\]
  28. Martin, D. M., Probst, F. J., Fox, S. E., Schimmenti, L. A., Semina, E. V., Hefner, M. A., Belmont, J. W., Camper, S. A.Exclusion of PITX2 mutations as a major cause of CHARGE association. Am. J. Med. Genet. 111: 27-30, 2002. [PubMed: 12124729] [Full Text: https://doi.org/10.1002/ajmg.10473\]
  29. Mommersteeg, M. T. M., Brown, N. A., Prall, O. W. J., de Gier-de Vries, C., Harvey, R. P., Moorman, A. F. M., Christoffels, V. M.Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium. Circ. Res. 101: 902-909, 2007. [PubMed: 17823370] [Full Text: https://doi.org/10.1161/CIRCRESAHA.107.161182\]
  30. Nadadur, R. D., Broman, M. T., Boukens, B., Mazurek, S. R., Yang, X., van den Boogaard, M., Bekeny, J., Gadek, M., Ward, T., Zhang, M., Qiao, Y., Martin, J. F., Seidman, C. E., Seidman, J., Christoffels, V., Efimov, I. R., McNally, E. M., Weber, C. R., Moskowitz, I. P.Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm. Sci. Transl. Med. 8: 354ra115, 2016. Note: Electronic Article. [PubMed: 27582060] [Full Text: https://doi.org/10.1126/scitranslmed.aaf4891\]
  31. Pellegrini-Bouiller, I., Manrique, C., Gunz, G., Grino, M., Zamora, A. J., Figarella-Branger, D., Grisoli, F., Jaquet, P., Enjalbert, A.Expression of the members of the Ptx family of transcription factors in human pituitary adenomas. J. Clin. Endocr. Metab. 84: 2212-2220, 1999. [PubMed: 10372733] [Full Text: https://doi.org/10.1210/jcem.84.6.5760\]
  32. Piedra, M. E., Icardo, J. M., Albajar, M., Rodriguez-Rey, J. C., Ros, M. A.Pitx2 participates in the late phase of the pathway controlling left-right asymmetry. Cell 94: 319-324, 1998. [PubMed: 9708734] [Full Text: https://doi.org/10.1016/s0092-8674(00)81475-0\]
  33. Priston, M., Kozlowski, K., Gill, D., Letwin, K., Buys, Y., Levin, A. V., Walter, M. A., Heon, E.Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum. Molec. Genet. 10: 1631-1638, 2001. [PubMed: 11487566] [Full Text: https://doi.org/10.1093/hmg/10.16.1631\]
  34. Saadi, I., Kuburas, A., Engle, J. J., Russo, A. F.Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome. Molec. Cell. Biol. 23: 1968-1982, 2003. [PubMed: 12612071] [Full Text: https://doi.org/10.1128/MCB.23.6.1968-1982.2003\]
  35. Saadi, I., Semina, E. V., Amendt, B. A., Harris, D. J., Murphy, K. P., Murray, J. C., Russo, A. F.Identification of a dominant negative homeodomain mutation in Rieger syndrome. J. Biol. Chem. 276: 23034-23041, 2001. [PubMed: 11301317] [Full Text: https://doi.org/10.1074/jbc.M008592200\]
  36. Sadeghi-Nejad, A., Senior, B.Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). J. Pediat. 85: 644-648, 1974. [PubMed: 4214375] [Full Text: https://doi.org/10.1016/s0022-3476(74)80507-x\]
  37. Semina, E. V., Reiter, R., Leysens, N. J., Alward, W. L. M., Small, K. W., Datson, N. A., Siegel-Bartelt, J., Bierke-Nelson, D., Bitoun, P., Zabel, B. U., Carey, J. C., Murray, J. C.Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nature Genet. 14: 392-399, 1996. [PubMed: 8944018] [Full Text: https://doi.org/10.1038/ng1296-392\]
  38. Sharp, T., Wang, J., Li, X., Cao, H., Gao, S., Moreno, M., Amendt, B. A.A pituitary homeobox 2 (Pitx2):microRNA-200a-3p:beta-catenin pathway converts mesenchymal cells to amelogenin-expressing dental epithelial cells. J. Biol. Chem. 289: 27327-27341, 2014. [PubMed: 25122764] [Full Text: https://doi.org/10.1074/jbc.M114.575654\]
  39. Shiratori, H., Sakuma, R., Watanabe, M., Hashiguchi, H., Mochida, K., Sakai, Y., Nishino, J., Saijoh, Y., Whitman, M., Hamada, H.Two-step regulation of left-right asymmetric expression of Pitx2: initiation by Nodal signaling and maintenance by Nkx2. Molec. Cell 7: 137-149, 2001. [PubMed: 11172719] [Full Text: https://doi.org/10.1016/s1097-2765(01)00162-9\]
  40. Sivakumar, A., Mahadevan, A., Lauer, M. E., Narvaez, R. J., Ramesh, S., Demler, C. M., Souchet, N. R., Hascall, V. C., Midura, R. J., Garantziotis, S., Frank, D. B., Kimata, K., Kurpios, N. A.Midgut laterality is driven by hyaluronan on the right. Dev. Cell 46: 533-551, 2018. [PubMed: 30174180] [Full Text: https://doi.org/10.1016/j.devcel.2018.08.002\]
  41. Tao, G., Kahr, P. C., Morikawa, Y., Zhang, M., Rahmani, M., Heallen, T. R., Li, L., Sun, Z., Olson, E. N., Amendt, B. A., Martin, J. F.Pitx2 promotes heart repair by activating the antioxidant response after cardiac injury. Nature 534: 119-123, 2016. [PubMed: 27251288] [Full Text: https://doi.org/10.1038/nature17959\]
  42. Venugopalan, S. R., Amen, M. A., Wang, J., Wong, L., Cavender, A. C., D'Souza, R. N., Akerlund, M., Brody, S. L., Hjalt, T. A., Amendt, B. A.Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. Hum. Molec. Genet. 17: 3643-3654, 2008. [PubMed: 18723525] [Full Text: https://doi.org/10.1093/hmg/ddn258\]
  43. Walter, M. A., Mirzayans, F., Mears, A. J., Hickey, K., Pearce, W. G.Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology 103: 1907-1915, 1996. [PubMed: 8942889] [Full Text: https://doi.org/10.1016/s0161-6420(96)30408-9\]
  44. Xia, K., Wu, L., Liu, X., Xi, X., Liang, D., Zheng, D., Cai, F., Pan, Q., Long, Z., Dai, H., Hu, Z., Tang, B., Zhang, Z., Xia, J.Mutation in PITX2 is associated with ring dermoid of the cornea. J. Med. Genet. 41: e129, 2004. Note: Electronic Article. [PubMed: 15591271] [Full Text: https://doi.org/10.1136/jmg.2004.022434\]
  45. Yashiro, K., Shiratori, H., Hamada, H.Haemodynamics determined by a genetic programme govern asymmetric development of the aortic arch. Nature 450: 285-288, 2007. [PubMed: 17994097] [Full Text: https://doi.org/10.1038/nature06254\]
  46. Ye, J., Tucker, N. R., Weng, L.-C., Clauss, S., Lubitz, S. A., Ellinor, P. T.A functional variant associated with atrial fibrillation regulates PITX2c expression through TFAP2a. Am. J. Hum. Genet. 99: 1281-1291, 2016. [PubMed: 27866707] [Full Text: https://doi.org/10.1016/j.ajhg.2016.10.001\]
  47. Yoshioka, H., Meno, C., Koshiba, K., Sugihara, M., Itoh, H., Ishimaru, Y., Inoue, T., Ohuchi, H., Semina, E. V., Murray, J. C., Hamada, H., Noji, S.Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. Cell 94: 299-305, 1998. [PubMed: 9708732] [Full Text: https://doi.org/10.1016/s0092-8674(00)81473-7\]