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

被引：0
|
作者：
Trilochan Sahoo
Daniela del Gaudio
Jennifer R German
Marwan Shinawi
Sarika U Peters
Richard E Person
Adolfo Garnica
Sau Wai Cheung
Arthur L Beaudet
机构：
[1] Molecular and Human Genetics,
[2] Baylor College of Medicine,undefined
[3] St. Francis Hospital,undefined
来源：
Nature Genetics | 2008年 / 40卷
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摘要：
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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页码：719 / 721
页数：2
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