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Volumn 9, Issue 6, 1997, Pages 623-629

Molecular genetics of Beckwith-Wiedemann syndrome

Author keywords

[No Author keywords available]

Indexed keywords

BECKWITH WIEDEMANN SYNDROME; CELL CYCLE; CHROMOSOME 11P; EMBRYONAL CARCINOMA; GENE EXPRESSION; GENE MUTATION; GENOME IMPRINTING; GROWTH; HUMAN; HYPERPLASIA; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

EID: 0031452521     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199712000-00012     Document Type: Review
Times cited : (50)

References (52)
  • 1
    • 76549164702 scopus 로고
    • Complexe malformatif familial avec hernia ombilicale et macroglossie: Un syndrome nouveau?
    • Wiedemann H: Complexe malformatif familial avec hernia ombilicale et macroglossie: un syndrome nouveau? J Genet Hum 1964, 13:223-232.
    • (1964) J Genet Hum , vol.13 , pp. 223-232
    • Wiedemann, H.1
  • 2
    • 0000077851 scopus 로고
    • Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly
    • Beckwith J: Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects 1969, V:188-196.
    • (1969) Birth Defects , vol.5 , pp. 188-196
    • Beckwith, J.1
  • 3
    • 0014764924 scopus 로고
    • Exomphalos-macroglossia-gigantism syndrome in Jamaican infants
    • Thomburn M, Wright E, Miller C, Smith-Read E: Exomphalos-macroglossia-gigantism syndrome in Jamaican infants. Am J Dis Child 1970, 119:316-321.
    • (1970) Am J Dis Child , vol.119 , pp. 316-321
    • Thomburn, M.1    Wright, E.2    Miller, C.3    Smith-Read, E.4
  • 4
    • 0007665444 scopus 로고
    • A reassessment of Beckwith-Wiedemann syndrome (BWS)
    • Carlin M, Escobar L, Ward R, Wielgus T: A reassessment of Beckwith-Wiedemann syndrome (BWS). Am J Hum Genet 1990, 47(suppl):A50.
    • (1990) Am J Hum Genet , vol.47 , Issue.SUPPL.
    • Carlin, M.1    Escobar, L.2    Ward, R.3    Wielgus, T.4
  • 5
    • 0022910322 scopus 로고
    • Wiedamann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature
    • Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD: Wiedamann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986, 74:143-154.
    • (1986) Hum Genet , vol.74 , pp. 143-154
    • Pettenati, M.J.1    Haines, J.L.2    Higgins, R.R.3    Wappner, R.S.4    Palmer, C.G.5    Weaver, D.D.6
  • 6
    • 0021179940 scopus 로고
    • Manifestations and natural history of idiopathic hemlhypertrophy: A review of eleven cases
    • Viljoen D, Pearn J, Beighton P: Manifestations and natural history of idiopathic hemlhypertrophy: a review of eleven cases. Clin Genet 1984, 26:81-86.
    • (1984) Clin Genet , vol.26 , pp. 81-86
    • Viljoen, D.1    Pearn, J.2    Beighton, P.3
  • 7
    • 0027377929 scopus 로고
    • Proteus syndrome: Clinical evidence for somatic mosaicism and selective review
    • Cohen MM, Jr: Proteus syndrome: clinical evidence for somatic mosaicism and selective review. Am J Med Genet 1993, 47:645-652.
    • (1993) Am J Med Genet , vol.47 , pp. 645-652
    • Cohen Jr., M.M.1
  • 8
    • 0026670134 scopus 로고
    • Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature
    • Garganta CL, Bodurtha JN: Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. Am J Med Genet 1992, 44:129-135.
    • (1992) Am J Med Genet , vol.44 , pp. 129-135
    • Garganta, C.L.1    Bodurtha, J.N.2
  • 10
    • 0023017259 scopus 로고
    • Perlman syndrome: Familial renal dysplasla with Wilms tumor, fetal gigantism, and multiple congenital anomalies
    • Perlman M: Perlman syndrome: familial renal dysplasla with Wilms tumor, fetal gigantism, and multiple congenital anomalies [latter]. Am J Med Genet 1986, 25:793-795.
    • (1986) Am J Med Genet , vol.25 , pp. 793-795
    • Perlman, M.1
  • 11
    • 0030584390 scopus 로고    scopus 로고
    • Costello syndrome: Update on the original cases and commentary
    • Costello JM: Costello syndrome: update on the original cases and commentary. Am J Med Genet 1996, 62:199-201.
    • (1996) Am J Med Genet , vol.62 , pp. 199-201
    • Costello, J.M.1
  • 12
    • 0029742296 scopus 로고    scopus 로고
    • Genomic imprinting: Significance in development and diseases and the molecular mechanisms
    • Nakao M, Sasaki H: Genomic imprinting: significance in development and diseases and the molecular mechanisms. J Biochem (Tokyo) 1996, 120:467-473.
    • (1996) J Biochem (Tokyo) , vol.120 , pp. 467-473
    • Nakao, M.1    Sasaki, H.2
  • 13
    • 0028209550 scopus 로고
    • New insights reveal complex mechanisms involved in genomic imprinting
    • Nicholls RD: New insights reveal complex mechanisms involved in genomic imprinting [editorial; comment]. Am J Hum Genet 1994, 54:733-740.
    • (1994) Am J Hum Genet , vol.54 , pp. 733-740
    • Nicholls, R.D.1
  • 16
    • 0026773169 scopus 로고
    • Molecular analysis of patients with Wiedemann-Beckwith syndrome: II: paternally derived disomies of chromosome 11
    • Nystrom A, Cheetham JE, Engstrom W, Schofield PN: Molecular analysis of patients with Wiedemann-Beckwith syndrome: II: paternally derived disomies of chromosome 11. Eur J Pediatr 1992, 151:511-514.
    • (1992) Eur J Pediatr , vol.151 , pp. 511-514
    • Nystrom, A.1    Cheetham, J.E.2    Engstrom, W.3    Schofield, P.N.4
  • 17
    • 0021400199 scopus 로고
    • Chromosome 11 and Beckwith-Wiedemann syndrome
    • Pueschel SM, Padre-Mendoza T: Chromosome 11 and Beckwith-Wiedemann syndrome [letter]. J Pediatr 1984, 104:484-485.
    • (1984) J Pediatr , vol.104 , pp. 484-485
    • Pueschel, S.M.1    Padre-Mendoza, T.2
  • 18
    • 0027289089 scopus 로고
    • Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
    • Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al.: Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet 1993, 2:549-556.
    • (1993) Hum Mol Genet , vol.2 , pp. 549-556
    • Weksberg, R.1    Teshima, I.2    Williams, B.R.3    Greenberg, C.R.4    Pueschel, S.M.5    Chernos, J.E.6    Fowlow, S.B.7    Hoyme, E.8    Anderson, I.J.9    Whiteman, D.A.10
  • 19
    • 0026559276 scopus 로고
    • Beckwith-Wiedemann syndrome: A demonstration of the mechanisms responsible for the excess of transmitting females
    • Moutou C, Junien C, Henry I, Bonaiti-Pellie C: Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females. J Med Genet 1992, 29:217-220.
    • (1992) J Med Genet , vol.29 , pp. 217-220
    • Moutou, C.1    Junien, C.2    Henry, I.3    Bonaiti-Pellie, C.4
  • 20
    • 0029848437 scopus 로고    scopus 로고
    • Molecular biology of Beckwith-Wiedemann syndrome
    • Weksberg R, Squire JA: Molecular biology of Beckwith-Wiedemann syndrome. Med Pediatr Oncol 1998, 27:462-469.
    • (1998) Med Pediatr Oncol , vol.27 , pp. 462-469
    • Weksberg, R.1    Squire, J.A.2
  • 21
    • 34250134720 scopus 로고
    • Tumours and hemihypertrophy associated with the Wiedemann-Beckwith syndrome
    • Wiedemann HR: Tumours and hemihypertrophy associated with the Wiedemann-Beckwith syndrome. Eur J Pediatr 1983, 141:129.
    • (1983) Eur J Pediatr , vol.141 , pp. 129
    • Wiedemann, H.R.1
  • 22
    • 0018835921 scopus 로고
    • Complete and incomplete forms of Beckwith-Wiedemann syndrome: Their oncogenic potential
    • Sotelo-Avila C, Gonzalez-Crussi F, Fowler JW: Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. J Pediatr 1980, 96:47-50.
    • (1980) J Pediatr , vol.96 , pp. 47-50
    • Sotelo-Avila, C.1    Gonzalez-Crussi, F.2    Fowler, J.W.3
  • 23
    • 0027420362 scopus 로고
    • Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
    • Weksberg R, Shen DR, Fei YL, Song QL, Squire J: Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 1993, 5:143-150.
    • (1993) Nat Genet , vol.5 , pp. 143-150
    • Weksberg, R.1    Shen, D.R.2    Fei, Y.L.3    Song, Q.L.4    Squire, J.5
  • 24
    • 0029806141 scopus 로고    scopus 로고
    • Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
    • Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W: Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet 1996, 5:2027-2032.
    • (1996) Hum Mol Genet , vol.5 , pp. 2027-2032
    • Brown, K.W.1    Villar, A.J.2    Bickmore, W.3    Clayton-Smith, J.4    Catchpoole, D.5    Maher, E.R.6    Reik, W.7
  • 26
    • 0028229910 scopus 로고
    • Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma
    • Zhan S, Shapiro DN, Helman LJ: Activation of an imprinted allele of the insulin-like growth factor II gene implicated in rhabdomyosarcoma. J Clin Invest 1994, 94:445-448.
    • (1994) J Clin Invest , vol.94 , pp. 445-448
    • Zhan, S.1    Shapiro, D.N.2    Helman, L.J.3
  • 28
  • 29
    • 0025967857 scopus 로고
    • Parental imprinting of the mouse insulin-like growth factor II gene
    • DeChiara TM, Robertson EJ, Efstratiadis A: Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991, 64:849-859.
    • (1991) Cell , vol.64 , pp. 849-859
    • DeChiara, T.M.1    Robertson, E.J.2    Efstratiadis, A.3
  • 30
    • 0028575985 scopus 로고
    • Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality
    • Lau MM, Stewart CE, Liu Z, Bhatt H, Rotwein P, Stewart CL: Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality. Genes Dev 1994, 8:2953-2963.
    • (1994) Genes Dev , vol.8 , pp. 2953-2963
    • Lau, M.M.1    Stewart, C.E.2    Liu, Z.3    Bhatt, H.4    Rotwein, P.5    Stewart, C.L.6
  • 32
    • 0028089079 scopus 로고
    • Overlapping patterns of IGF2 and H19 expression during human development: Biallelic IGF2 expression correlates with a lack of H19 expression
    • Ohlsson R, Hedborg F, Holmgren L, Walsh C, Ekstrom TJ: Overlapping patterns of IGF2 and H19 expression during human development: biallelic IGF2 expression correlates with a lack of H19 expression. Development 1994, 120:361-368.
    • (1994) Development , vol.120 , pp. 361-368
    • Ohlsson, R.1    Hedborg, F.2    Holmgren, L.3    Walsh, C.4    Ekstrom, T.J.5
  • 33
    • 0028935017 scopus 로고
    • Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor
    • Taniguchi T, Sullivan MJ, Ogawa O, Reeve AE: Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor. Proc Natl Acad Sci U S A 1995, 92:2159-2163.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 2159-2163
    • Taniguchi, T.1    Sullivan, M.J.2    Ogawa, O.3    Reeve, A.E.4
  • 34
    • 0029939816 scopus 로고    scopus 로고
    • Somatic overgrowth associated with overexpresslon of insulin-like growth factor II
    • Morison IM, Becroft DM, Taniguchi T, Woods CG, Reevs AE: Somatic overgrowth associated with overexpresslon of insulin-like growth factor II. Nat Med 1996, 2:311-316.
    • (1996) Nat Med , vol.2 , pp. 311-316
    • Morison, I.M.1    Becroft, D.M.2    Taniguchi, T.3    Woods, C.G.4    Reevs, A.E.5
  • 37
    • 0029122489 scopus 로고
    • Expression, promoter usage and parental imprinting status of insulin-like growth factor II (IGF2) in human hepatoblastoma: Uncoupling of IGF2 and H19 imprinting
    • Li X, Adam G, Cui H, Sandstedt B, Ohlsson R, Ekstrom TJ: Expression, promoter usage and parental imprinting status of insulin-like growth factor II (IGF2) in human hepatoblastoma: uncoupling of IGF2 and H19 imprinting. Oncogene 1995, 11:221-229.
    • (1995) Oncogene , vol.11 , pp. 221-229
    • Li, X.1    Adam, G.2    Cui, H.3    Sandstedt, B.4    Ohlsson, R.5    Ekstrom, T.J.6
  • 38
    • 0030053512 scopus 로고    scopus 로고
    • High incidence of loss of heterozygosity and abnormal imprinting of H19 and IGF2 genes in invasive cervical carcinomas: Uncoupling of H19 and IGF2 expression and biallelic hypomethylation of H19
    • Douc-Rasy S, Barrois M, Fogel S, Ahomadegbe JC, Stehelin D, Coll J, Riou G: High incidence of loss of heterozygosity and abnormal imprinting of H19 and IGF2 genes in invasive cervical carcinomas: uncoupling of H19 and IGF2 expression and biallelic hypomethylation of H19. Oncogene 1996, 12:423-430.
    • (1996) Oncogene , vol.12 , pp. 423-430
    • Douc-Rasy, S.1    Barrois, M.2    Fogel, S.3    Ahomadegbe, J.C.4    Stehelin, D.5    Coll, J.6    Riou, G.7
  • 39
    • 0028988158 scopus 로고
    • Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution
    • Lee MH, Reynisdottir I, Massague J: Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev 1995, 9:639-649.
    • (1995) Genes Dev , vol.9 , pp. 639-649
    • Lee, M.H.1    Reynisdottir, I.2    Massague, J.3
  • 40
    • 0028988159 scopus 로고
    • p57kip2, a structurally distinct member of the p21cip1 Cdk inhibitor family, is a candidate tumor suppressor gene
    • Matsuoka S, Edwards MC, Bai C, Parker S, Zhang P, Baldini A, Harper JW, Elledge SJ: p57kip2, a structurally distinct member of the p21cip1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev 1995, 9:650-662.
    • (1995) Genes Dev , vol.9 , pp. 650-662
    • Matsuoka, S.1    Edwards, M.C.2    Bai, C.3    Parker, S.4    Zhang, P.5    Baldini, A.6    Harper, J.W.7    Elledge, S.J.8
  • 42
    • 0030955563 scopus 로고    scopus 로고
    • Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development
    • Yan Y, Frisen J, Lee MH, Massague J, Barbacid M: Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development Genes Dev 1997, 11:973-983.
    • (1997) Genes Dev , vol.11 , pp. 973-983
    • Yan, Y.1    Frisen, J.2    Lee, M.H.3    Massague, J.4    Barbacid, M.5
  • 46
    • 0031046285 scopus 로고    scopus 로고
    • Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
    • Lee M, Hu R, Johnson L, Feinberg A: Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet 1997, 15:181-185. This study reports that the most distal cluster of BWS-associated translocation breakpoints falls within the coding region of one gene in the 11p15 region.
    • (1997) Nat Genet , vol.15 , pp. 181-185
    • Lee, M.1    Hu, R.2    Johnson, L.3    Feinberg, A.4
  • 50
    • 0031001346 scopus 로고    scopus 로고
    • Xist has properties of the X-chromosome inactivation centre
    • Herzing L, Romer J, Horn J, Ashworth A: Xist has properties of the X-chromosome inactivation centre. Nat Genet 1997, 386:272-275.
    • (1997) Nat Genet , vol.386 , pp. 272-275
    • Herzing, L.1    Romer, J.2    Horn, J.3    Ashworth, A.4
  • 51
    • 0030895047 scopus 로고    scopus 로고
    • Long-range cis effects of ectopic X-inactivation centres on a mouse autosome
    • Lee J, Jaenisch R: Long-range cis effects of ectopic X-inactivation centres on a mouse autosome. Nat Genet 1997, 386:275-279.
    • (1997) Nat Genet , vol.386 , pp. 275-279
    • Lee, J.1    Jaenisch, R.2
  • 52
    • 0008434483 scopus 로고
    • Summary and recommendations of the workshop held at the first international conference on molecular and clinical genetics of childhood renal tumors
    • Clericuzio CL, D'Angio GJ, Duncan M, Green DM, Knudson AG Jr: Summary and recommendations of the workshop held at the first international conference on molecular and clinical genetics of childhood renal tumors. Med Pediatr Oncol 1993, 21:233-236.
    • (1993) Med Pediatr Oncol , vol.21 , pp. 233-236
    • Clericuzio, C.L.1    D'Angio, G.J.2    Duncan, M.3    Green, D.M.4    Knudson Jr., A.G.5


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