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Nature Research, Nature Genetics, 10(48), p. 1185-1192, 2016

DOI: 10.1038/ng.3661

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

Journal article published in 2016 by Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti ORCID, Anthony Oojageer, Laurence C. Goosey, Jenkinson Em, Christopher J. Kershaw, Rodero Mp, Jill E. Urquhart, Simon G. Williams, Yohann Rose, Sanjeev S. Bhaskar, Kasher Pr, James O'Sullivan and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Although ribosomes are ubiquitously expressed 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 encoding 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.