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

doi:10.1038/ng.158

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

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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 language	English
Pages (from-to)	719-721
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	6
DOIs	https://doi.org/10.1038/ng.158
State	Published - Jun 2008

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@article{ec78c318525f4debbd2abe9f60fe49bc,

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

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.",

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

note = "Funding Information: This work was supported by US National Institutes of Health grants HD-037283 and M01-RR00188 (General Clinical Research Center), HD-024064 (Mental Retardation and Developmental Disabilities Research Center) and RR-019478 (Rare Disease Clinical Research Consortia). We thank J. Bressler for critical reading of the manuscript.",

year = "2008",

month = jun,

doi = "10.1038/ng.158",

language = "English",

volume = "40",

pages = "719--721",

journal = "Nature Genetics",

issn = "1061-4036",

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T1 - Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

AU - Sahoo, Trilochan

AU - Del Gaudio, Daniela

AU - German, Jennifer R.

AU - Shinawi, Marwan

AU - Peters, Sarika U.

AU - Person, Richard E.

AU - Garnica, Adolfo

AU - Cheung, Sau Wai

AU - Beaudet, Arthur L.

N1 - Funding Information: This work was supported by US National Institutes of Health grants HD-037283 and M01-RR00188 (General Clinical Research Center), HD-024064 (Mental Retardation and Developmental Disabilities Research Center) and RR-019478 (Rare Disease Clinical Research Consortia). We thank J. Bressler for critical reading of the manuscript.

PY - 2008/6

Y1 - 2008/6

N2 - 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.

AB - 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.

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DO - 10.1038/ng.158

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SN - 1061-4036

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EP - 721

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

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

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