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Review

Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

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Pages 169-175 | Published online: 16 Sep 2014

References

  • MiozzoMSimoniGThe role of imprinted genes in fetal growthBiol Neonate20028121722812011565
  • TabanoSColapietroPCetinIEpigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restrictionEpigenetics2010165313324
  • JurkowskaRZJeltschAGenomic imprinting – the struggle of the genders at the molecular levelAngew Chem Int Ed Engl201352135241353624346936
  • ChoufaniSShumanCWeksbergRBeckwith–Wiedemann syndromeAm J Med Genet C Semin Med Genet2010154C34335420803657
  • ArboledaVALeeHParnaikRMutations in the PCNA-binding domain of CDKN1C cause IMAGe syndromeNat Genet20124478878922634751
  • LeeMHReynisdottirIMassagueJCloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distributionGenes Dev199596396497729683
  • HatadaIMukaiTGenomic imprinting of p57KIP2, a cyclin-dependent kinase inhibitor, in mouseNat Genet1995112042067550351
  • MatsuokaSThompsonJSEdwardsMCImprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15Proc Natl Acad Sci U S A199693302630308610162
  • MarxSJMolecular genetics of multiple endocrine neoplasia types 1 and 2Nat Rev Cancer2005536737515864278
  • EngströmWLindhamSSchofieldPWiedemann-Beckwith syndromeEur J Pediatr19881474504573044795
  • WeksbergRShumanCBeckwithJBBeckwith–Wiedemann syndromeEur J Hum Genet20101881419550435
  • GreerKJKirkpatrickSJWeksbergRPauliRMBeckwith–Wiedemann syndrome in adults: observations from one family and recommendations for careAm J Med Genet Part A2008146A1707171218546283
  • BliekJAldersMMaasSMLessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cellsEur J Hum Genet2009171625163419513094
  • CohenMMJrBeckwith–Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectivesPediatr Dev Pathol2005828730416010495
  • PettenatiMJHainesJLHigginsRRWappnerRSPalmerCGWeaverDDWiedemann–Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literatureHum Genet1986741431543770742
  • WengEYMoeschlerJBJrGrahamJMLongitudinal observations on 15 children with Wiedemann-Beckwith syndromeAm J Med Genet1995563663737541608
  • MunnsCBatchJHyperinsulinism and Beckwith–Wiedemann syndromeArch Dis Child Fetal Neonatal Ed200184F67F6911124932
  • WilsonMPetersGBennettsBThe clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reportsAm J Med Genet2008146A13714818033734
  • GosdenRTraslerJLuciferoDFaddyMRare congenital disorders, imprinted genes, and assisted reproductive technologyLancet20033611975197712801753
  • HallidayJOkeKBrehenySAlgarEBeckwith–Wiedemann syndrome and IVF: a case control studyAm J Hum Genet200475526.e815284956
  • StrawnEYJrBickDSwansonAIs it the patient or the IVF? Beckwith–Wiedemann syndrome in both spontaneous and assisted reproductive conceptionsFertil Steril201094754.e1754.e220338562
  • CalvelloMTabanoSColapietroPQuantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith–Wiedemann syndromeEpigenetics201381053106023917791
  • WiedemannHRTumors: an hemihypertrophy associated with Wiedemann-Beckwith syndromeEur J Pediatr1983141129
  • TanTYAmorDJTumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practiceJ Paediatr Child Health20064248649016925531
  • DeBaunMRTuckerMARisk of cancer during the first four years of life in children from the Beckwith–Wiedemann Syndrome RegistryJ Pediatr19981323984009544889
  • ClericuzioCLMartinRADiagnostic criteria and tumor screening for individuals with isolated hemiphyperplasiaGenet Med20091122022219367194
  • BrioudeFLacosteANetchineIBeckwith–Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillanceHorm Res Paediatr20138045746524335096
  • ShumanCBeckwithJBSmithACWeksbergRBeckwith–Wiedemann syndrome. December 14, 2010PagonRAAdamMPBirdTDGeneReviews®Seattle, WA, USAUniversity of Washington, Seattle1993–2014 Available from: http://www.ncbi.nlm.nih.gov/books/NBK1394/Accessed July 30, 2014
  • RomanelliVBelinchónABenito-SanzSCDKN1C (p57(Kip2)) analysis in Beckwith–Wiedemann syndrome (BWS) patients: genotype-phenotype correlations, novel mutations, and polymorphismsAm J Med Genet A2010152A1390139720503313
  • LamWWHatadaIOhishiSAnalysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith–Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlationJ Med Genet19993651852310424811
  • WeksbergRShumanCSmithACBeckwith–Wiedemann syndromeAm J Med Genet Part C2005137C122316010676
  • WelshHIStockleyTLParkinsonNArdingerHHCDKN1C mutations and genital anomaliesAm J Med Genet A2012158A26522140035
  • BliekJMaasSMRuijterJMIncreased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWSHum Mol Genet20011046747611181570
  • WeksbergRNishikawaJCaluseriuOTumor development in the Beckwith Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1Hum Mol Genet2001102989300011751681
  • ChitayatDFriedmanJMDimmickJENeuroblastoma in a child with Wiedemann Beckwith syndromeAm J Med Genet Part C201035433436
  • DelgadoALozanoMJRuffaGBeckwith–Wiedemann syndrome. Presentation of 5 casesMinerva Pediatr1975272452611226194
  • ElliottMBaylyRColeTTempleIKMaherERClinical features and natural history of Beckwith–Wiedemann syndrome: Presentation of 74 new casesClin Genet1994461681747820926
  • KimYShibutaniTHirotaYMahbubSFMatsuuraHAnesthetic considerations of two sisters with Beckwith–Wiedemann syndromeAnesth Prog199643242810323122
  • LarocheCTestelinSDevauchelleBCleft palate and Beck-with–Wiedemann syndromeCleft Palate Craniofac J20054221221715748114
  • RomanelliVBelinchonACampos-BarrosACDKN1C mutations in HELLP/preeclamptic mothers of Beckwith–Wiedemann syndrome (BWS) patientsPlacenta20093055155419386358
  • VilainELe MerrerMLecointreCIMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaliesJ Clin Endocrinol Metab1999844335434010599684
  • PedreiraCCSavarirayanRZacharinMRIMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal developmentJ Pediatr200414427427714760276
  • AmanoNNaoakiHIshiiTRadiological evolution in IMAGe association: a case reportAm J Med Genet A2008146A2130213318627061
  • BalasubramanianMSpriggAJohnsonDSIMAGe syndrome: case report with a previously unreported feature and review of published literatureAm J Med Genet A2010152A3138314221108398
  • KatoFHamajimaTHasegawaTIMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patientsClin Endocrinol (Oxf)20148070671324313804
  • SoejimaHHigashimotoKEpigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disordersJ Hum Genet20135840240923719190
  • DiasRPMaherERAn imprinted IMAGe: insights into growth regulation through genomic analysis of a rare diseaseGenome Med201246022839767
  • HamajimaNJohmuraYSuzukiSNakanishiMSaitohSIncreased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndromePLoS One20138e7513724098681
  • HatadaIOhashiHFukushimaYAn imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndromeNat Genet1996141711738841187
  • BennettJSchrier VerganoSDeardorffMAIMAGe syndromePagonRAAdamMPBirdTDGeneReviews®Seattle, WA, USAUniversity of Washington, Seattle19932014 Available from: http://www.ncbi.nlm.nih.gov/books/NBK190103/Accessed July 30, 2014
  • BorrielloACaldarelliIBencivengaDp57(Kip2) and cancer: time for a critical appraisalMol Cancer Res201191269128421816904