학술논문
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Document Type
Article
Author
Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; Cordelli, Duccio M; De Waele, Liesbeth M; Fay, Alexander J; Ferreira, Patrick; Fletcher, Nicholas A; Fryer, Alan E; Goel, Himanshu; Hemingway, Cheryl A; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G; Lourenço, Charles M; Malpas, Timothy J; Mehta, Sarju G; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H; Sinnathuray, Kanaga R; Soh, Calvin; Stewart, Helen S; Stone, John; Van Esch, Hilde; Van Mol, Christine E G; Vanderver, Adeline; Wakeling, Emma L; Whitney, Andrea; Pavitt, Graham D; Griffiths-Jones, Sam; Rice, Gillian I; Revy, Patrick; van der Knaap, Marjo S; Livingston, John H; O'Keefe, Raymond T; Crow, Yanick J
Source
Nature Genetics; October 2016, Vol. 48 Issue: 10 p1185-1192, 8p
Subject
Language
ISSN
10614036; 15461718
Abstract
Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis.