作者
Christian Beetz, Rebecca Schüle, Tine Deconinck, Khanh-Nhat Tran-Viet, Hui Zhu, Berry PH Kremer, Suzanna GM Frints, Wendy AG van Zelst-Stams, Paula Byrne, Susanne Otto, Anders OH Nygren, Jonathan Baets, Katrien Smets, Berten Ceulemans, Bernard Dan, Narasimhan Nagan, Jan Kassubek, Sven Klimpe, Thomas Klopstock, Henning Stolze, Hubert JM Smeets, Constance TRM Schrander-Stumpel, Michael Hutchinson, Bart P van de Warrenburg, Corey Braastad, Thomas Deufel, Margaret Pericak-Vance, Ludger Schöls, Peter De Jonghe, Stephan Züchner
发表日期
2008/4/1
期刊
Brain
卷号
131
期号
4
页码范围
1078-1086
出版商
Oxford University Press
简介
Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploinsufficiency. Interestingly, we identified two disease associated variations in the 3′-UTR of REEP1 that fell into highly conserved micro RNA binding sites. Copy number variation analysis in a subset of 133 HSP index patients revealed a large duplication of REEP1 that involved …
引用总数
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