Clinical phenotypes of MAGEL2 mutations and deletions

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Buiting, Karin ^a   Di Donato, Nataliya ^b   Beygo, Jasmin ^a   Bens, Susanne ^c   Von Der Hagen, Maja ^d   Hackmann, Karl ^b   Horsthemke, Bernhard ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AUTOSOMAL RECESSIVE DISORDER; BYSTANDER EFFECT; DELAYED PUBERTY; EPISTASIS; EXOME; GENE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; LOSS OF FUNCTION MUTATION; MAGEL2 GENE; MOTOR PERFORMANCE; NDN GENE; PHENOTYPE; POINT MUTATION; PRADER WILLI SYNDROME; PRECOCIOUS PUBERTY; PROMOTER REGION; SNORD116 GENE; X CHROMOSOME RECESSIVE DISORDER;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENE DELETION; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; PROMOTER REGIONS, GENETIC; PROTEINS;

EID: 84899461851     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-40     Document Type: Letter

References (7)

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2. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. 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, Hum Mol Genet 2009 18 3257 3265 10.1093/hmg/ddp263 19498035
3. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. 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, Eur J Hum Genet 2010 18 1196 1201 10.1038/ejhg.2010.102 20588305
4. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. 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, Nat Genet 2013 45 1405 1408 10.1038/ng.2776 24076603
5. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, Kuechler A, Horsthemke B, Buiting K, Eur J Hum Genet 2009 17 582 590 10.1038/ejhg.2008.232 19066619
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7. Stochastic loss of silencing of the imprinted Ndn/NDN allele, in a mouse model and humans with prader-willi syndrome, has functional consequences. 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, PLoS Genet 2013 9 1003752 10.1371/journal.pgen.1003752 24039599