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Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader–Willi Syndrome
Open AccessCase Report

Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion

1
Department of Pediatrics, University of Alberta, Edmonton, T6G 2E1 AB, Canada
2
University of Alberta Hospital, Stollery Children’s Hospital, Edmonton, T6G 2B7 AB, Canada
3
Levo Therapeutics, Inc., Skokie, 60077 IL, USA
4
Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, T6G 2E1 AB, Canada
5
Department of Pediatrics, University of Saskatchewan, Saskatoon, S7N 0W8 SK, Canada
6
Levo Therapeutics, Inc., Skokie, 60077 IL, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(2), 128; https://doi.org/10.3390/genes11020128
Received: 17 December 2019 / Revised: 22 January 2020 / Accepted: 22 January 2020 / Published: 25 January 2020
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
We report a 17-year-old boy who met most of the major Prader–Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding followed by hyperphagia, early-onset morbid obesity, delayed development, and characteristic facial features. However, unlike many children with PWS, he had spontaneous onset of puberty and reached a tall adult stature without growth hormone replacement therapy. A phenotype-driven genetic analysis using exome sequencing identified a heterozygous microdeletion of 71 kb in size at chr15:25,296,613-25,367,633, genome build hg 19. This deletion does not affect the SNURF-SNRPN locus, but results in the loss of several of the PWS-associated non-coding RNA species, including the SNORD116 cluster. We compared with six previous reports of patients with PWS who carried small atypical deletions encompassing the snoRNA SNORD116 cluster. These patients share similar core symptoms of PWS while displaying some atypical features, suggesting that other genes in the region may make lesser phenotypic contributions. Altogether, these rare cases provide convincing evidence that loss of the paternal copy of the SNORD116 snoRNA is sufficient to cause most of the major clinical features of PWS.
Keywords: Prader–Willi; 15q11.2; SNORD116; atypical microdeletion Prader–Willi; 15q11.2; SNORD116; atypical microdeletion
MDPI and ACS Style

Tan, Q.; Potter, K.J.; Burnett, L.C.; Orsso, C.E.; Inman, M.; Ryman, D.C.; Haqq, A.M. Prader–Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion. Genes 2020, 11, 128.

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