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

被引：413

作者：

Sahoo, Trilochan ^{[1
]}

del Gaudio, Daniela ^{[1
]}

German, Jennifer R. ^{[1
]}

Shinawi, Marwan ^{[1
]}

Peters, Sarika U. ^{[1
]}

Person, Richard E. ^{[1
]}

Garnica, Adolfo ^{[2
]}

Cheung, Sau Wai ^{[1
]}

Beaudet, Arthur L. ^{[1
]}

机构：

[1] Baylor Coll Med, Houston, TX 77030 USA

[2] St Francis Hosp, Tulsa, OK 74136 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 06期

关键词：

D O I：

10.1038/ng.158

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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：3

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