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

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Calcinosis / genetics
  • Calcinosis / pathology
  • Cell Line
  • Cerebral Small Vessel Diseases / genetics*
  • Cerebral Small Vessel Diseases / pathology
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 17
  • Cohort Studies
  • Cysts / genetics
  • Cysts / pathology
  • Exome
  • Female
  • Genetic Linkage
  • Genome, Human
  • Humans
  • Infant
  • Leukoencephalopathies / genetics*
  • Leukoencephalopathies / pathology
  • Male
  • Middle Aged
  • Mutation*
  • RNA, Small Nucleolar / genetics*
  • Sequence Analysis, DNA
  • Young Adult

Substances

  • RNA, Small Nucleolar