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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
van Bosse HJP, Butler MG
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030260. PMID: 32121146Free PMC Article
Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU
J Dev Behav Pediatr 2010 Sep;31(7):592-601. doi: 10.1097/DBP.0b013e3181ee408e. PMID: 20729760Free 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
Syding LA, Nickl P, Kasparek P, Sedlacek R
Cells 2020 Apr 16;9(4) doi: 10.3390/cells9040993. PMID: 32316223Free PMC Article
Gos M
Acta Neurobiol Exp (Wars) 2013;73(1):19-37. doi: 10.55782/ane-2013-1919. PMID: 23595281
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
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB
Pediatrics 2001 Nov;108(5):E92. doi: 10.1542/peds.108.5.e92. PMID: 11694676

Diagnosis

Ahn H, Seo GH, Oh A, Lee Y, Keum C, Heo SH, Kim T, Choi J, Kim GH, Ko TS, Yum MS, Lee BH, Choi IH
Medicine (Baltimore) 2020 Dec 18;99(51):e23864. doi: 10.1097/MD.0000000000023864. PMID: 33371171Free 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
Hoffmann K, Heller R
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004. PMID: 21396576
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
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
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
Wharton RH, Loechner KJ
Curr Opin Pediatr 1996 Dec;8(6):618-24. doi: 10.1097/00008480-199612000-00013. PMID: 9018447

Prognosis

Godler DE, Ling L, Gamage D, Baker EK, Bui M, Field MJ, Rogers C, Butler MG, Murgia A, Leonardi E, Polli R, Schwartz CE, Skinner CD, Alliende AM, Santa Maria L, Pitt J, Greaves R, Francis D, Oertel R, Wang M, Simons C, Amor DJ
JAMA Netw Open 2022 Jan 4;5(1):e2141911. doi: 10.1001/jamanetworkopen.2021.41911. PMID: 34982160Free PMC Article
Carson RP, Bird L, Childers AK, Wheeler F, Duis J
Mol Genet Genomic Med 2019 Sep;7(9):e837. Epub 2019 Aug 10 doi: 10.1002/mgg3.837. PMID: 31400086Free 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
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

Clinical prediction guides

McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP
J Med Genet 2018 May;55(5):307-315. Epub 2018 Mar 1 doi: 10.1136/jmedgenet-2017-105024. PMID: 29496979
McNamara GI, Isles AR
Biochem Soc Trans 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. PMID: 23697931
Gos M
Acta Neurobiol Exp (Wars) 2013;73(1):19-37. doi: 10.55782/ane-2013-1919. PMID: 23595281
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
Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, Bellamy M, Curran SR, Sporikou CM, Bolton PF
J Child Psychol Psychiatry 2005 Oct;46(10):1089-96. doi: 10.1111/j.1469-7610.2005.01520.x. PMID: 16178933

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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