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Prader-Willi syndrome due to imprinting mutation

MedGen UID:
1826086
Concept ID:
C5680510
Disease or Syndrome
Monarch Initiative: MONDO:0015786
Orphanet: ORPHA177910

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrader-Willi syndrome due to imprinting mutation

Professional guidelines

PubMed

Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Santoro SL, Hashimoto S, McKinney A, Mihalic Mosher T, Pyatt R, Reshmi SC, Astbury C, Hickey SE
Cytogenet Genome Res 2017;152(2):105-109. Epub 2017 Jul 27 doi: 10.1159/000478921. PMID: 28746920

Recent clinical studies

Etiology

Ryan NM, Heron EA
J Appl Genet 2023 May;64(2):303-317. Epub 2023 Jan 30 doi: 10.1007/s13353-022-00742-8. PMID: 36710277Free PMC Article
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Haltrich I
Exp Suppl 2019;111:443-473. doi: 10.1007/978-3-030-25905-1_20. PMID: 31588543
Bennett JA, Germani T, Haqq AM, Zwaigenbaum L
Am J Med Genet A 2015 Dec;167A(12):2936-44. Epub 2015 Aug 29 doi: 10.1002/ajmg.a.37286. PMID: 26331980
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Diagnosis

Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
Napolitano L, Barone B, Morra S, Celentano G, La Rocca R, Capece M, Morgera V, Turco C, Caputo VF, Spena G, Romano L, De Luca L, Califano G, Collà Ruvolo C, Mangiapia F, Mirone V, Longo N, Creta M
Int J Mol Sci 2021 Feb 17;22(4) doi: 10.3390/ijms22041993. PMID: 33671467Free PMC Article
Kalsner L, Chamberlain SJ
Pediatr Clin North Am 2015 Jun;62(3):587-606. Epub 2015 Apr 22 doi: 10.1016/j.pcl.2015.03.004. PMID: 26022164Free PMC Article
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658
Cassidy SB
J Med Genet 1997 Nov;34(11):917-23. doi: 10.1136/jmg.34.11.917. PMID: 9391886Free PMC Article

Therapy

Oldzej J, Manazir J, Gold JA, Mahmoud R, Osann K, Flodman P, Cassidy SB, Kimonis VE
Am J Med Genet A 2020 Jan;182(1):169-175. Epub 2019 Nov 29 doi: 10.1002/ajmg.a.61408. PMID: 31782896
Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G
Gene 2016 Jan 10;575(2 Pt 1):353-8. Epub 2015 Sep 1 doi: 10.1016/j.gene.2015.08.058. PMID: 26335514
Amor DJ, Halliday J
Hum Reprod 2008 Dec;23(12):2826-34. Epub 2008 Aug 14 doi: 10.1093/humrep/den310. PMID: 18703582
Lalande M, Calciano MA
Cell Mol Life Sci 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. PMID: 17347796
Wharton RH, Loechner KJ
Curr Opin Pediatr 1996 Dec;8(6):618-24. doi: 10.1097/00008480-199612000-00013. PMID: 9018447

Prognosis

Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z
PLoS One 2016;11(2):e0147824. Epub 2016 Feb 3 doi: 10.1371/journal.pone.0147824. PMID: 26841067Free PMC Article
Adams DJ, Clark DA
Pediatr Clin North Am 2015 Apr;62(2):411-26. Epub 2015 Jan 22 doi: 10.1016/j.pcl.2014.11.005. PMID: 25836705
McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Butler MG
J Assist Reprod Genet 2009 Sep-Oct;26(9-10):477-86. Epub 2009 Oct 21 doi: 10.1007/s10815-009-9353-3. PMID: 19844787Free PMC Article
Veltman MW, Craig EE, Bolton PF
Psychiatr Genet 2005 Dec;15(4):243-54. doi: 10.1097/00041444-200512000-00006. PMID: 16314754

Clinical prediction guides

Yamada M, Okuno H, Okamoto N, Suzuki H, Miya F, Takenouchi T, Kosaki K
Eur J Med Genet 2023 Feb;66(2):104690. Epub 2022 Dec 30 doi: 10.1016/j.ejmg.2022.104690. PMID: 36587803
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Manzardo AM, Weisensel N, Ayala S, Hossain W, Butler MG
Clin Genet 2018 Mar;93(3):622-631. Epub 2018 Feb 5 doi: 10.1111/cge.13142. PMID: 28984907Free PMC Article
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658
Walter J, Paulsen M
Semin Cell Dev Biol 2003 Feb;14(1):101-10. doi: 10.1016/s1084-9521(02)00142-8. PMID: 12524013

Recent systematic reviews

Bennett JA, Germani T, Haqq AM, Zwaigenbaum L
Am J Med Genet A 2015 Dec;167A(12):2936-44. Epub 2015 Aug 29 doi: 10.1002/ajmg.a.37286. PMID: 26331980
Rocha CF, Paiva CL
Genet Mol Res 2014 Mar 31;13(1):2290-8. doi: 10.4238/2014.March.31.9. PMID: 24737477
Veltman MW, Craig EE, Bolton PF
Psychiatr Genet 2005 Dec;15(4):243-54. doi: 10.1097/00041444-200512000-00006. PMID: 16314754

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