Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Trilochan Sahoo, Daniela Del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard E. Person, Adolfo Garnica, Sau Wai Cheung, Arthur L. Beaudet

Research output: Contribution to journalArticle

381 Scopus citations

Abstract

Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.

Original languageEnglish
Pages (from-to)719-721
Number of pages3
JournalNature Genetics
Volume40
Issue number6
DOIs
StatePublished - Jun 1 2008
Externally publishedYes

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    Sahoo, T., Del Gaudio, D., German, J. R., Shinawi, M., Peters, S. U., Person, R. E., Garnica, A., Cheung, S. W., & Beaudet, A. L. (2008). Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nature Genetics, 40(6), 719-721. https://doi.org/10.1038/ng.158