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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2014

Open Access 01-12-2014 | Letter to the Editor

Clinical phenotypes of MAGEL2 mutations and deletions

Authors: Karin Buiting, Nataliya Di Donato, Jasmin Beygo, Susanne Bens, Maja von der Hagen, Karl Hackmann, Bernhard Horsthemke

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

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Excerpt

Although it has long been known that Prader-Willi syndrome (PWS) is caused by the loss of function of imprinted, paternally expressed genes in 15q11q13, the contribution of the different genes within this region has not yet been completely resolved. Based on the identification of rare deletions affecting only the snoRNA gene cluster SNORD116 it has been suggested that this is the major locus [1‐3]. Recently, Schaaf et al. have described truncating mutations of MAGEL2 in four patients with a broad range of clinical phenotypes [4]. The authors conclude that "MAGEL2 loss of function can contribute to several aspects of the PWS phenotype". While this may be true, we think that the available data are not sufficient to justify this conclusion. …
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Literature
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Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL: Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008, 40: 719-721. 10.1038/ng.158.CrossRefPubMedPubMedCentral
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de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI: A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Hum Mol Genet. 2009, 18: 3257-3265. 10.1093/hmg/ddp263.CrossRefPubMedPubMedCentral
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Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T: Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet. 2010, 18: 1196-1201. 10.1038/ejhg.2010.102.CrossRefPubMedPubMedCentral
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Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y: Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013, 45: 1405-1408. 10.1038/ng.2776.CrossRefPubMedPubMedCentral
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Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K: A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet. 2009, 17: 582-590. 10.1038/ejhg.2008.232.CrossRefPubMedPubMedCentral
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Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB: Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013, 368: 2467-2475. 10.1056/NEJMoa1302160.CrossRefPubMed
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Rieusset A, Schaller F, Unmehopa U, Matarazzo V, Watrin F, Linke M, Georges B, Bischof J, Dijkstra F, Bloemsma M, Corby S, Michel FJ, Wevrick R, Zechner U, Swaab D, Dudley K, Bezin L, Muscatelli F: Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences. PLoS Genet. 2013, 9: e1003752. 10.1371/journal.pgen.1003752.CrossRefPubMedPubMedCentral
Metadata
Title
Clinical phenotypes of MAGEL2 mutations and deletions
Authors
Karin Buiting
Nataliya Di Donato
Jasmin Beygo
Susanne Bens
Maja von der Hagen
Karl Hackmann
Bernhard Horsthemke
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-9-40

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