A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 141 B, Issue 2, 2006, Pages 184-191

  Idrees, Faisal ^a   Bloch Zupan, Agnes ^a,b,c   Free, Samantha L ^d   Vaideanu, Daniela ^e   Thompson, Pamela J ^d   Ashley, Paul ^b   Brice, Glen ^f   Rutland, Paul ^g   Bitner Glindzicz, Maria ^g   Khaw, Peng T ^h   Fraser, Scott ^a,e   Sisodiya, Sanjay M ^d   Sowden, Jane C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e SUNDERLAND EYE INFIRMARY   (United Kingdom)

^f ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

Cerebellar vermis hypoplasia; Cisterna magna; Glaucoma; PITX2; Tooth hypodontia

Indexed keywords

ARGININE; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR PITX2;

ADOLESCENT; ADULT; ARTICLE; AXENFELD RIEGER SYNDROME; BIRTH DEFECT; BRAIN MALFORMATION; CANINE TOOTH; CASE REPORT; CEREBELLUM; CISTERNA MAGNA; CORNEA; DISEASE ASSOCIATION; DISEASE SEVERITY; EYE MALFORMATION; FEMALE; GENE; GENE MUTATION; GLAUCOMA; HOMEOBOX; HUMAN; HYPODONTIA; HYPOPHYSIS; HYPOPLASIA; INCISOR; INTELLECT; IRIS; MALE; MAXILLA; MISSENSE MUTATION; MOLAR TOOTH; PERIODONTAL DISEASE; PHENOTYPE; PITX2 GENE; PRIORITY JOURNAL; SELLA TURCICA; SKILL; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BRAIN; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FAMILY HEALTH; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TOOTH ABNORMALITIES; TRANSCRIPTION FACTORS;

TURCICA;

EID: 32244442984     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30237     Document Type: Article

References (54)

1. Alward WL. 2000. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 130:107-715.
2. Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC. 1998. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 125:98-100.
3. Bisgrove BW, Essner JJ, Yost HJ. 2000. Multiple pathways in the midline regulate concordant brain, heart and gut left-right asymmetry. Development 127:3567-3579.
4. Borges AS, Susanna R, Jr. Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY. 2002. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. J Glaucoma 11:51-56.
5. Brooks JK, Coccaro PJ, Jr. Zarbin MA. 1989. The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Pathol 68:717-724.
6. Capdevila I, Belmonte JC. 2000. Knowing left from right: The molecular basis of laterally defects. Mol Med Today 6:112-118.
7. Childers NK, Wright JT. 1986. Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. J Oral Pathol 15:534-539.
8. Cobourne MT, Sharpe PT. 2003. Tooth and jaw: Molecular mechanisms of patterning in the first branchial arch. Arch Oral Biol 48:1-14.
9. Concha ML, Russell C, Regan JC, Tawk M, Sidi S, Gilmour DT, Kapsimali M, Sumoy L, Goldstone K, Amaya E, Kimelman D, Nicolson T, Grunder S, Gomperts M, Clarke JD, Wilson SW. 2003. Local tissue interactions across the dorsal midline of the forebrain establish CNS laterality. Neuron 39:423-438.
10. D'Elia AV, Tell G, Paron I, Pellizzari L, Lonigro R, Damante G. 2001. Missense mutations of human homeoboxes: A review. Hum Mutat 18: 361-374.
11. Dimitrakopoulos J, Voyatzis N, Katopodi T. 1997. Rieger syndrome: A case report. J Oral Maxillofac Surg 55:517-521.
12. Drum MA, Kaiser-Kupfer MI, Guckes AD, Roberts MW. 1985. Oral manifestations of the Rieger syndrome: Report of case. J Am Dent Assoc 110:343-346.
13. Fleischer-Peters A, Lang GE. 1989. [Missing upper incisors as cardinal symptom in Rieger's syndrome]. Dtsch Zahnarztl Z 44:228-231.
14. Free SL, Mitchell TN, Williamson KA, Churchill AJ, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. 2003. Quantitative MR image analysis in subjects with defects in the PAX6 gene. Neuroimage 20:2281-2290.
15. Gage PJ, Suh H, Camper SA. 1999. Dosage requirement of Pitx2 for development of multiple organs. Development 126:4643-4651.
16. Gorlin RJ, Cohen MM, Hennekam JRCM. 2001. Syndromes of the head and neck. Oxford: University Press.
17. Gould DB, John SW. 2002. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet 11:1185-1193.
18. Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V. 1993. PAX6 mutations in aniridia. Hum Mol Genet 2:915-920.
19. Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. 2003. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol 135:368-375.
20. Kitamura K, Miura H, Yanazawa M, Miyashita T, Kato K. 1997. Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation. Mech Dev 67:83-96.
21. Kozlowski K, Walter MA. 2000. Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders. Hum Mol Genet 9:2131-2139.
22. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. 1998. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet 7:1113-1117.
23. Langdon JD. 1970. Rieger's syndrome. Oral Surg Oral Med Oral Pathol 30:789-795.
24. Lapeer GL. 1986. Rieger's syndrome. Severe dental anomalies with mild ophthalmic changes-A case report. J Can Dent Assoc 52:935-937,
25. Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS. 2000. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet 67:1129-1135.
26. Lin CR, Kioussi C, O'Connell S, Briata P, Szeto D, Liu F, Izpisua-Belmonte JC, Rosenfeld MG. 1999. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature 401:279-282.
27. Lu MF, Pressman C, Dyer R, Johnson RL, Martin JF. 1999. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 401:276-278.
28. Martin DM, Skidmore JM, Fox SE, Gage PJ, Camper SA. 2002. Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium. Dev Biol 252:84-99.
29. Martin DM, Skidmore JM, Philips ST, Vieira C, Gage PJ, Condie BG, Raphael Y, Martinez S, Camper SA. 2004. PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain. Dev Biol 267:93-108.
30. Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO. 2001. Haploinsufficieney of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 27:17-18.
31. Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerback S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA. 1998. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 63:1316-1328.
32. Mirzayans F, Gould DB, Heon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA. 2000. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet 8:71-74.
33. Mitchell TN, Free SL, Williamson KA, Stevens JM, Churchill AJ, Hanson IM, Shorvon SD, Moore AT, van Heyningen V, Sisodiya SM. 2003. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol 53:658-663.
34. Moog U, Bleeker-Wagemakers EM, Crobach P, Vies JS, Schrander-Stumpel CT. 1998. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: A new autosomal recessive syndrome? Am J Med Genet 78:263-266.
35. Mucchielli ML, Mitsiadis TA, Raffo S, Brunet JF, Proust JP, Goridis C. 1997. Mouse Otlx2/RIEG expression in the odontogenic epithelium precedes tooth initiation and requires mesenchyme-derived signals for its maintenance. Dev Biol 189:275-284.
36. Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. 1998. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19:140-147.
37. Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. 2001. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet 68:364-372.
38. Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. 2000. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci 41:2456-2460.
39. Phillips JC. 2002. Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. Ophthalmic Res 34:324-326.
40. Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. 1996. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 59:613-619.
41. Powell EM, Campbell DB, Stanwood GD, Davis C, Noebels JL, Levitt P. 2003. Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. J Neurosci 23:622-631.
42. Prabhu NT, John R, Munshi AK. 1997. Rieger's syndrome: A case report. Quintessence Int 28:749-752.
43. Riise R, Storhaug K, Brondum-Nielsen K. 2001. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand 79:201-203.
44. Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF. 2001. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem 276:23034-23041.
45. Scully KM, Rosenfeld MG. 2002. Pituitary development: Regulatory codes in mammalian organogenesis. Science 295:2231-2235.
46. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. 1996. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14:392-399.
47. Sisodiya SM, Free SL, Williamson KA, Mitchell TN, Willis C, Stevens JM, Kendall BE, Shorvon SD, Hanson IM, Moore AT, van Heyningen V. 2001. PAX6 haploinsufficieney causes cerebral malformation and olfactory dysfunction in humans. Nat Genet 28:214-216.
48. Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BL, John SW. 2000. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet 9:1021-1032.
49. Tewari S, Govila CP, Garg AP. 1991. Rieger's syndrome. J Oral Pathol Med 20:514-515.
50. Thompson P, Mitchell TN, Free SL, Williamson KA, Hanson IM, van Heyningen V, Moore AT, Sisodiya SM. 2004. Cognitive findings in humans with mutations in PAX6. Neurology 62:1216-1218.
51. Wang Y, Zhao H, Zhang X, Feng H. 2003. Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. J Dent Res 82:1008-1012.
52. Wechsler D. 1987. Wechsler Adult Intelligence Scale. Revised. London: Psychological Corporation.
53. Yost HJ. 2001. Establishment of left-right asymmetry. Int Rev Cytol 203:357-381.
54. Zhao Y, Westphal H. 2002. Homeobox genes and human genetic disorders. Curr Mol Med 2:13-23.