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Beckwith-Wiedemann syndrome due to CDKN1C mutation

MedGen UID:
1826157
•Concept ID:
C5680918
•
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016476
Orphanet: ORPHA231120

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Beckwith-Wiedemann syndrome due to CDKN1C mutation

Professional guidelines

PubMed

Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP
Mol Genet Metab 2016 Sep;119(1-2):8-13. Epub 2016 Jul 12 doi: 10.1016/j.ymgme.2016.07.003. PMID: 27436784
The potential impact of the fetal genotype on maternal blood pressure during pregnancy.
Petry CJ, Beardsall K, Dunger DB
J Hypertens 2014 Aug;32(8):1553-61; discussion 1561. doi: 10.1097/HJH.0000000000000212. PMID: 24842698
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER
J Med Genet 1999 Jul;36(7):518-23. PMID: 10424811Free PMC Article

Recent clinical studies

Etiology

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. PMID: 35765875Free PMC Article
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE
Turk J Pediatr 2018;60(5):506-513. doi: 10.24953/turkjped.2018.05.006. PMID: 30968633
Imprinted disorders and growth.
Giabicani É, Brioude F, Le Bouc Y, Netchine I
Ann Endocrinol (Paris) 2017 Jun;78(2):112-113. Epub 2017 May 4 doi: 10.1016/j.ando.2017.04.010. PMID: 28478949
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
Soejima H, Higashimoto K
J Hum Genet 2013 Jul;58(7):402-9. Epub 2013 May 30 doi: 10.1038/jhg.2013.51. PMID: 23719190
Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
Enklaar T, Zabel BU, Prawitt D
Expert Rev Mol Med 2006 Jul 17;8(17):1-19. doi: 10.1017/S1462399406000020. PMID: 16842655

Diagnosis

Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.
Best LG, Duffy KA, George AM, Ganguly A, Kalish JM
Am J Med Genet A 2023 Feb;191(2):348-356. Epub 2022 Nov 2 doi: 10.1002/ajmg.a.63026. PMID: 36322462
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.
Baker SW, Duffy KA, Richards-Yutz J, Deardorff MA, Kalish JM, Ganguly A
J Med Genet 2021 Mar;58(3):178-184. Epub 2020 May 19 doi: 10.1136/jmedgenet-2019-106498. PMID: 32430359Free PMC Article
Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome.
Bilgin B, Kabaçam S, Taşkıran E, Şimşek-Kiper PÖ, Alanay Y, Boduroğlu K, Utine GE
Turk J Pediatr 2018;60(5):506-513. doi: 10.24953/turkjped.2018.05.006. PMID: 30968633
CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M
Trends Mol Med 2014 Nov;20(11):614-22. Epub 2014 Sep 25 doi: 10.1016/j.molmed.2014.09.001. PMID: 25262539
Beckwith-Wiedemann syndrome.
Choufani S, Shuman C, Weksberg R
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):343-54. doi: 10.1002/ajmg.c.30267. PMID: 20803657

Therapy

Case Report: Liraglutide for Weight Management in Beckwith-Wiedemann Syndromic Obesity.
Caputo M, Daffara T, Bellone S, Mancioppi V, Marzullo P, Aimaretti G, Prodam F
Front Endocrinol (Lausanne) 2021;12:687918. Epub 2021 Jun 22 doi: 10.3389/fendo.2021.687918. PMID: 34239499Free PMC Article

Prognosis

Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. PMID: 35765875Free PMC Article
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population.
Luk HM
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):89-95. doi: 10.1515/jpem-2016-0094. PMID: 27977403
The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.
Pappas JG
Curr Probl Pediatr Adolesc Health Care 2015 Apr;45(4):112-7. Epub 2015 Apr 7 doi: 10.1016/j.cppeds.2015.03.001. PMID: 25861997
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P
Eur J Hum Genet 2011 Apr;19(4):416-21. Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.236. PMID: 21248736Free PMC Article
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER
Eur J Hum Genet 2005 Sep;13(9):1025-32. doi: 10.1038/sj.ejhg.5201463. PMID: 15999116

Clinical prediction guides

Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping.
Best LG, Duffy KA, George AM, Ganguly A, Kalish JM
Am J Med Genet A 2023 Feb;191(2):348-356. Epub 2022 Nov 2 doi: 10.1002/ajmg.a.63026. PMID: 36322462
Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.
Kim HY, Shin CH, Lee YA, Shin CH, Kim GH, Ko JM
Ann Lab Med 2022 Nov 1;42(6):668-677. doi: 10.3343/alm.2022.42.6.668. PMID: 35765875Free PMC Article
Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Chang S, Bartolomei MS
Dis Model Mech 2020 May 26;13(5) doi: 10.1242/dmm.044123. PMID: 32424032Free PMC Article
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population.
Luk HM
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):89-95. doi: 10.1515/jpem-2016-0094. PMID: 27977403
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB
Clin Genet 2016 Jul;90(1):21-7. Epub 2016 Mar 15 doi: 10.1111/cge.12759. PMID: 26857110

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