Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 114-119

  Gripp, Karen W ^a   Hopkins, Elizabeth ^a   Jenny, Kim ^a   Thacker, Deepika ^a   Salvin, Jonathan ^a  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

Author keywords

ASD; Axenfeld Rieger syndrome; Congenital heart defect; FOXC1; Hip dysplasia; PITX2

Indexed keywords

FUROSEMIDE; MILRINONE; TRANSCRIPTION FACTOR FOXC1;

ABNORMAL LABORATORY RESULT; ARTICLE; AXENFELD RIEGER SYNDROME; CARDIOMEGALY; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL HEART DISEASE; ECHOCARDIOGRAPHY; FAMILY HISTORY; FOXC1 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GLAUCOMA; HEART ATRIUM ENLARGEMENT; HEART CATHETERIZATION; HUMAN; INTRAOCULAR PRESSURE ABNORMALITY; IRIS DISEASE; LUNG CONGESTION; MALE; MITRAL VALVE PROSTHESIS; MITRAL VALVE REGURGITATION; MITRAL VALVE REPLACEMENT; OPTIC NERVE DISEASE; PATENT FORAMEN OVALE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; RIEGER SYNDROME; TELECANTHUS; TRABECULOTOMY; TRICUSPID VALVE REGURGITATION;

ANTERIOR EYE SEGMENT; EYE ABNORMALITIES; FORKHEAD TRANSCRIPTION FACTORS; GLAUCOMA; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84871703447     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35697     Document Type: Article

References (28)

1. Akkus MN, Argin A. 2010. Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. Clin Dysmorphology 19:56-61.
2. Antevil J, Umakanthan R, Leacche M, Brewer Z, Solenkova N, Byrne JG, Greelish JP. 2009. Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome. Heart Valve Dis 18:349-351.
3. Aysenur Pac F, Cagdas DN, Necati Demir M. 2008. Axenfeld-Rieger syndrome and pseudotruncus arteriosus. Int J Cardiol 126:e4-e7.
4. Bekir NA, Gungor K. 2000. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scand 78:101-103.
5. Calcagni G, Digilio MC, Capolino R, Dallapiccola B, Marino B. 2006. Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son. Clin Dysmorphology 15:203-206.
6. Chang TC, Summers CG, Schimmenti LA, Grajewski AL. 2012. Axenfeld-Rieger syndrome: New perspectives. Br J Ophthalmol 96:318-322.
7. Chen S, D'Souza N. 1990. Familial tetralogy of Fallot and glaucoma. Am J Med Genet 37:40-41.
8. Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraitser M. 1991. Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities and a distinctive facial phenotype. Am J Med Genet 40:417-420.
9. Cunningham ET, Eliott D, Miller NR, Maumenee IH, Green WR. 1998. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. Arch Ophthalmol 116:78-82.
10. Fitch N, Kaback M. 1978. The Axenfeld syndrome and the Rieger syndrome. J Med Genet 15:30-34.
11. Fuse N, Takahashi K, Yokokura S, Nishida K. 2007. Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome. Mol Vision 13:1005-1009.
12. Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, Balestri P. 2002. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome? Am J Med Genet 111:182-186.
13. Gurbuz-Koz O, Atalay T, Koz C, Ruhi HI, Yarangumeli A, Kural G. 2007. Axenfeld-Rieger syndrome associated with truncus arteriosus: A case report. Turkish J Pediatr 49:444-447.
14. Hjalt TA, Semina EV. 2005. Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med 7:1-17.
15. Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WLM. 2003. A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthal 135:368-375.
16. Mammi I, De Giorgio P, Clementi M, Tenconi R. 1998. Cardiovascular anomaly in Rieger syndrome: Heterogeneity or contiguity? Acta Opthalmol Scand 76:509-512.
17. 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, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA. 1998. Mutations in the forkhead/winged-helix gene, FKHL7 is responsible for glaucoma phenothypes which map to 6p25. AM J Hum Genet 63:1316-1328.
18. Murphy TC, Saleem RA, Footz T, Ritch R, McGillivray B, Walter MA. 2004. The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions. Invest Ophthalmol Vis Sci 45:2531-2538.
19. Nishimura DY, Swiderski RE, Alward WLM, 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.
20. Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJG, Stroh E, Broeckel U, Murray JC, Semina EV. 2012. PITX2 and FOXC1 spectrum of mutations in ocular syndromes. Europ J Hum Genet advance online publication.
21. Robin NH, Biesecker LG. 2001. Considerations for a multiaxis nomenclature system for medical genetics. Genet Med 3:290-293.
22. 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.
23. Strungaru MH, Dinu I, Walter MA. 2007. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci 48:228-237.
24. Suzuki T, Takahashi K, Kuwahara S, Wada Y, Abe T, Tamai M. 2001. A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome. Am J Ophthalmol 132:572-575.
25. Swiderski RE, Reiter RS, Nishimura DY, Alward WLM, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJ-C. 1999. Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects. Dev Dyn 216:16-27.
26. Tsai JC, Grajewski AL. 1994. Cardiac valvular disease and Axenfeld-Rieger syndrome. Am J Ophthalmol 118:255-256.
27. Tumer Z, Bach-Holm D. 2009. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet 17:1527-1539.
28. Van Daele SG, van Coster RN, Meire F, Smets AM, Leroy JG. 1996. Fibrotic eye muscles, Axenfeld anomaly, flat face and mild developmental retardation: A new example of Chitty syndrome. Am J Med Genet 65:205-208.