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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

Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
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

Recent clinical studies

Etiology

Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
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

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
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
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
Young ID
Lancet 1995 Jun 24;345(8965):1590. doi: 10.1016/s0140-6736(95)90112-4. PMID: 7783534

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
Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE
Genet Med 2014 Feb;16(2):164-9. Epub 2013 Aug 8 doi: 10.1038/gim.2013.97. PMID: 23928912Free PMC Article
Vermeiden JP, Bernardus RE
Fertil Steril 2013 Mar 1;99(3):642-51. doi: 10.1016/j.fertnstert.2013.01.125. PMID: 23714438
Lalande M, Calciano MA
Cell Mol Life Sci 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. PMID: 17347796Free PMC Article

Prognosis

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
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
Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP
J Intellect Disabil Res 2002 Jan;46(Pt 1):41-50. doi: 10.1046/j.1365-2788.2002.00354.x. PMID: 11851855
Webb T
J Med Genet 1994 Aug;31(8):585-94. doi: 10.1136/jmg.31.8.585. PMID: 7815414Free PMC Article

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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