메뉴 건너뛰기




Volumn 15, Issue 4, 2006, Pages 203-206

Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son

Author keywords

Atrial septal defect; Autosomal dominant inheritance; Axenfeld Rieger anomaly; Congenital heart defect

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; AXENFELD RIEGER SYNDROME; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; EYE MALFORMATION; FATHER CHILD RELATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; MALE; OPHTHALMOLOGY; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME; SEGREGATION ANALYSIS;

EID: 33748577628     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000228417.36295.4d     Document Type: Article
Times cited : (10)

References (35)
  • 1
    • 0031984554 scopus 로고    scopus 로고
    • Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
    • Alward WLM, Semina EV, Kaòlenak JW, Heon E, Sheth BP, Stone EM, et al. (1998). Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 125:98-100.
    • (1998) Am J Ophthalmol , vol.125 , pp. 98-100
    • Alward, W.L.M.1    Semina, E.V.2    Kaòlenak, J.W.3    Heon, E.4    Sheth, B.P.5    Stone, E.M.6
  • 2
    • 0037262103 scopus 로고    scopus 로고
    • Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
    • Anderlid B-M, Schoumans J, Hallqvist A, Stahl Y, Wallin A, Blennow E, et al. (2003). Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet 11:89-92.
    • (2003) Eur J Hum Genet , vol.11 , pp. 89-92
    • Anderlid, B.-M.1    Schoumans, J.2    Hallqvist, A.3    Stahl, Y.4    Wallin, A.5    Blennow, E.6
  • 4
    • 0020612595 scopus 로고
    • Autosomal dominant iridogoniodysgenesis with associated anomalies: Four-generation family with Rieger's syndrome
    • Crisholm LA, Chudley AE (1983). Autosomal dominant iridogoniodysgenesis with associated anomalies: four-generation family with Rieger's syndrome. Br J Ophthalmol 67:529-534.
    • (1983) Br J Ophthalmol , vol.67 , pp. 529-534
    • Crisholm, L.A.1    Chudley, A.E.2
  • 5
  • 6
    • 20144373058 scopus 로고    scopus 로고
    • Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    • DeScipio C, Schneider L, Young TL,Wassermann N, Yaeger D, Lu F, et al. (2005). Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet 134:3-11.
    • (2005) Am J Med Genet , vol.134 , pp. 3-11
    • DeScipio, C.1    Schneider, L.2    Young, T.L.3    Wassermann, N.4    Yaeger, D.5    Lu, F.6
  • 11
    • 0017806488 scopus 로고
    • The Axenfeld syndrome and the Rieger syndrome
    • Fitch N, Kaback M (1978). The Axenfeld syndrome and the Rieger syndrome. Med Genet 15:30-34.
    • (1978) Med Genet , vol.15 , pp. 30-34
    • Fitch, N.1    Kaback, M.2
  • 12
    • 0043267988 scopus 로고    scopus 로고
    • GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
    • Garg V, Kathiriya IS, Barnes R, Schluterman NK, King IN, Butler CA, et al. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424:443-447.
    • (2003) Nature , vol.424 , pp. 443-447
    • Garg, V.1    Kathiriya, I.S.2    Barnes, R.3    Schluterman, N.K.4    King, I.N.5    Butler, C.A.6
  • 14
    • 0037158479 scopus 로고    scopus 로고
    • Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: A provisionally unique genetic syndrome?
    • Grosso S, Farnetani MA, Berardi R, Vivarelli R, Vanni M, Morgese G, et al. (2002). Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome? Am J Med Genet 111:182-186.
    • (2002) Am J Med Genet , vol.111 , pp. 182-186
    • Grosso, S.1    Farnetani, M.A.2    Berardi, R.3    Vivarelli, R.4    Vanni, M.5    Morgese, G.6
  • 16
    • 0037373710 scopus 로고    scopus 로고
    • A family with Axenfeld-Rieger syndrome and Peters anomaly caused by point mutation (phe112ser) in the FOXC1 gene
    • Honkanen RA, Nishimura DY, Swiderki RE, Bennett SR, Hong S, Kwon YH, et al. (2003). A family with Axenfeld-Rieger syndrome and Peters anomaly caused by point mutation (phe112ser) in the FOXC1 gene. Am J Ophthalmol 135:368-374.
    • (2003) Am J Ophthalmol , vol.135 , pp. 368-374
    • Honkanen, R.A.1    Nishimura, D.Y.2    Swiderki, R.E.3    Bennett, S.R.4    Hong, S.5    Kwon, Y.H.6
  • 17
    • 0035883744 scopus 로고    scopus 로고
    • The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis
    • Kume T, Jiang HY, Topczewska JM, Hogan BLM (2001). The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. Genes Dev 15:2470-2482.
    • (2001) Genes Dev , vol.15 , pp. 2470-2482
    • Kume, T.1    Jiang, H.Y.2    Topczewska, J.M.3    Hogan, B.L.M.4
  • 18
    • 0038875342 scopus 로고    scopus 로고
    • Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
    • Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al. (1997). Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16:243-251.
    • (1997) Nat Genet , vol.16 , pp. 243-251
    • Li, L.1    Krantz, I.D.2    Deng, Y.3    Genin, A.4    Banta, A.B.5    Collins, C.C.6
  • 19
    • 0037092595 scopus 로고    scopus 로고
    • Molecular genetics of Axenfeld-Rieger malformations
    • Lines MA, Kozlowski K, Walter MA (2002). Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 11:1177-1184.
    • (2002) Hum Mol Genet , vol.11 , pp. 1177-1184
    • Lines, M.A.1    Kozlowski, K.2    Walter, M.A.3
  • 20
    • 0031820201 scopus 로고    scopus 로고
    • Cardiovascular anomaly in Rieger syndrome: Heterogeneity or contiguity?
    • Mammi I, de Giorgio P, Clementi M, Tenconi R (1998). Cardiovascular anomaly in Rieger syndrome: heterogeneity or contiguity? Acta Ophthalmol Scand 76:509-512.
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 509-512
    • Mammi, I.1    De Giorgio, P.2    Clementi, M.3    Tenconi, R.4
  • 21
    • 19944431348 scopus 로고    scopus 로고
    • Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
    • Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, et al. (2005). Axenfeld-Rieger malformation and distinctive facial features: clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet 132A:381-385.
    • (2005) Am J Med Genet , vol.132 A , pp. 381-385
    • Maclean, K.1    Smith, J.2    St Heaps, L.3    Chia, N.4    Williams, R.5    Peters, G.B.6
  • 22
    • 0032231330 scopus 로고    scopus 로고
    • Mutations of the Forkhead/Winged-Helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
    • Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, et al. (1998). Mutations of the Forkhead/Winged-Helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 63:1316-1328.
    • (1998) Am J Hum Genet , vol.63 , pp. 1316-1328
    • Mears, A.J.1    Jordan, T.2    Mirzayans, F.3    Dubois, S.4    Kume, T.5    Parlee, M.6
  • 24
    • 12144287606 scopus 로고    scopus 로고
    • Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
    • Ng D, Thakker N, Corcoran CM, Donnai D, Parveen R, Schneider A, et al. (2004). Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 36:411-416.
    • (2004) Nat Genet , vol.36 , pp. 411-416
    • Ng, D.1    Thakker, N.2    Corcoran, C.M.3    Donnai, D.4    Parveen, R.5    Schneider, A.6
  • 25
    • 17344368672 scopus 로고    scopus 로고
    • The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
    • Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, et al. (1998). The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19:140-147.
    • (1998) Nat Genet , vol.19 , pp. 140-147
    • Nishimura, D.Y.1    Swiderski, R.E.2    Alward, W.L.3    Searby, C.C.4    Patil, S.R.5    Bennet, S.R.6
  • 27
    • 0030914459 scopus 로고    scopus 로고
    • Mutations in the human Jagged1 gene are responsible for Alagille syndrome
    • Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al. (1997). Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16:235-242.
    • (1997) Nat Genet , vol.16 , pp. 235-242
    • Oda, T.1    Elkahloun, A.G.2    Pike, B.L.3    Okajima, K.4    Krantz, I.D.5    Genin, A.6
  • 28
    • 16544371915 scopus 로고    scopus 로고
    • A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family
    • Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, et al. (2004). A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet 41:e97.
    • (2004) J Med Genet , vol.41
    • Okubo, A.1    Miyoshi, O.2    Baba, K.3    Takagi, M.4    Tsukamoto, K.5    Kinoshita, A.6
  • 29
    • 0040920369 scopus 로고    scopus 로고
    • Johns Hopkins University, Baltimore, Maryland, MIM Number: (399166)
    • Online Mendelian Inheritance in Man, OMIM (TM), Johns Hopkins University, Baltimore, Maryland, MIM Number: (399166). Available at: http://www.ncbi.nlm. nih.gov/omim/.
    • Online Mendelian Inheritance in Man, OMIM (TM)
  • 30
    • 28444447608 scopus 로고    scopus 로고
    • Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
    • Sarkozy A, Conti E, Neri C, D'Agostino R, Digilio MC, Esposito G, et al. (2005). Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 42:e16.
    • (2005) J Med Genet , vol.42
    • Sarkozy, A.1    Conti, E.2    Neri, C.3    D'Agostino, R.4    Digilio, M.C.5    Esposito, G.6
  • 31
  • 32
    • 0020971487 scopus 로고
    • Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
    • Shields MB (1983). Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 81:736-784.
    • (1983) Trans Am Ophthalmol Soc , vol.81 , pp. 736-784
    • Shields, M.B.1
  • 34
    • 0032865861 scopus 로고    scopus 로고
    • Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects
    • Swiderski RE, Reiter RS, Nishimura DY, Alward WLM, Kalenak JW, Searby CS, et al. (1999). Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dynamics 216:16-27.
    • (1999) Dev Dynamics , vol.216 , pp. 16-27
    • Swiderski, R.E.1    Reiter, R.S.2    Nishimura, D.Y.3    Alward, W.L.M.4    Kalenak, J.W.5    Searby, C.S.6
  • 35
    • 0027528418 scopus 로고
    • Congenital cataract, microphthalmia and septal heart defect in two generations: A new syndrome?
    • Wilkie AOM, Taylor D, Scambler PJ, Baraitser M (1993). Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? Clin Dysmorphol 2:114-119.
    • (1993) Clin Dysmorphol , vol.2 , pp. 114-119
    • Wilkie, A.O.M.1    Taylor, D.2    Scambler, P.J.3    Baraitser, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.