Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 252-255

  Bieth, Eric ^a   Eddiry, Sanaa ^b   Gaston, Véronique ^a   Lorenzini, Franҫoise ^c,d   Buffet, Alexandre ^a   Conte Auriol, Franҫoise ^b   Molinas, Catherine ^b,d   Cailley, Dorothée ^e   Rooryck, Caroline ^e   Arveiler, Benoit ^e   Cavaillé, Jérome ^f   Salles, Jean Pierre ^b,g   Tauber, Maïthé ^b,d,g  

^a CHU PURPAN   (France)

^b France   (France)

^c CHU RANGUEIL   (France)

^d Centre de Référence du Syndrome de Prader Willi   (France)

^e UNIVERSITÉ DE BORDEAUX   (France)

^f Université Paul Sabatier   (France)

^g HÔPITAL DES ENFANTS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

SMALL NUCLEOLAR RNA; SNORD116 PROTEIN; UNCLASSIFIED DRUG; SMALL NUCLEOLAR RNA 116, HUMAN;

ADULT; ANGER; APNEA HYPOPNEA INDEX; ARTICLE; CASE REPORT; DAYTIME SOMNOLENCE; DEVELOPMENTAL DISORDER; DNA METHYLATION; ENDOCRINE DISEASE; FEMALE; GENE; GENE CLUSTER; GENE DELETION; HUMAN; HYPERPHAGIA; HYPOGONADISM; MULTIPLEX POLYMERASE CHAIN REACTION; OBESITY; PATHOGENESIS; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SPONTANEOUS ABORTION; YOUNG ADULT; GENETICS; MALE; METABOLISM; PRADER-WILLI SYNDROME;

ADULT; FEMALE; GENE DELETION; HUMANS; MALE; PRADER-WILLI SYNDROME; RNA, SMALL NUCLEOLAR;

EID: 84921345341     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.103     Document Type: Article

References (20)

1. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M: Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 93: 4183-4197.
2. Cassidy S, Schwartz S, Miller JL, Driscoll DJ: Prader-Willi syndrome. Genet Med 2012; 14: 10-26.
3. Schüle B, Albalwi M, Northrop E et al: Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome. BMC Med Genet 2005; 6: 18.
4. Skryabin BV, Gubar LV, Seeger B et al: Deletion of the MBII-85 snoRNA gene cluster in mice results in postnatal growth retardation. PLoS Genet 2007; 3: e235.
5. Ding F, Li HH, Zhang S et al: SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS One 2008; 3: e1709.
6. Duker AL, Ballif BC, Bawle EV et al: 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.
7. Sahoo T, del Gaudio D, German JR et 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.
8. de Smith AJ, Purmann C, Walters RG et al: 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.
9. Kim SJ, Miller JL, Kuipers PJ et al: Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 2012; 20: 283-290.
10. Feigerlova E, Diene G, Conte-Auriol F et al: Hyperghrelinemia precedes obesity in Prader-Willi syndrome. J Clin Endocrinol Metab 2008; 93: 2800-2805.
11. Diene G, Mimoun E, Feigerlova E et al: Endocrine disorders in children with Prader-Willi syndrome data from 142 children of the French database. Horm Res Paediatr 2010; 74: 121-128.
12. Bachré N, Diene G, Delagne V et al: Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feedins and prevent early obesity in PWS infants. Horm Res Paediatr 2008; 69: 45-52.
13. Anderlid BM, Lundin J, Malmgren H, Lehtihet M, Nordgren A: Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. Am J Med Genet Part A 2013; 9999: 1-7.
14. Cavaille J, Buiting K, Kiefmann M et al: Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc Natl Acad Sci USA 2000; 97: 14311-14316.
15. Zhang Q, Bouma GJ, McClellan K, Tobet S: Hypothalamic expression of SnoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome. Int J Dev Neurosci 2012; 30: 479-485.
16. Yin QF, Yang L, Zhang Y et al: Long noncoding RNAs with snoRNA ends. Mol Cell 2012; 48: 219-230.
17. Vitali P, Royo H, Marty V, Bortolin-Cavaillé ML, Cavaillé J: Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays. J Cell Sci 2010; 123: 70-83.
18. Powell WT, Coulson RL, Crary FK et al: A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure. Hum Mol Genet 2013; 22: 4318-4328.
19. Powell WT, Coulson RL, Gonzales ML et al: R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation. Proc Natl Acad Sci USA 2013; 34: 13938-13948.
20. Schaaf CP, Gonzalez-Garay ML, Xia F et al: Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 2013; 45: 1405-1408.