Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

- Jenkinson, Emma M.; Rodero, Mathieu P.; 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.; Kasher, Paul R.; 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.; Uggenti, Carolina; 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.; Oojageer, Anthony; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Geraldine; Schiffmann, Raphael; Sherr, Elliott H.; Sinnathuray, Kanaga R.; Goosey, Laurence C.; 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; Rose, Yoann; Rice, Gillian I.; Revy, Patrick; van der Knaap, Margo S.; Livingston, John H.; O'Keefe, Raymond T.; Crow, Yanick J.; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.

Title: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Creator: Jenkinson, Emma M.; Rodero, Mathieu P.; 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.; Kasher, Paul R.; 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.; Uggenti, Carolina; 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.; Oojageer, Anthony; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Geraldine; Schiffmann, Raphael; Sherr, Elliott H.; Sinnathuray, Kanaga R.; Goosey, Laurence C.; 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; Rose, Yoann; Rice, Gillian I.; Revy, Patrick; van der Knaap, Margo S.; Livingston, John H.; O'Keefe, Raymond T.; Crow, Yanick J.; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.
Relation: Nature Genetics Vol. 48, Issue 10, p. 1185-1192
Publisher Link: http://dx.doi.org/10.1038/ng.3661
Publisher: Nature Publishing Group
Resource Type: journal article
Date: 2016
Description: 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.
Subject: clinical genetics; medical genetics
Identifier: http://hdl.handle.net/1959.13/1342285
Identifier: uon:28937
Identifier: ISSN:1061-4036
Language: eng
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