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

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Jenkinson EM,Rodero MP,Kasher PR,Uggenti C,Oojageer A,Goosey LC,Rose Y,Kershaw CJ,Urquhart JE,Williams SG,Bhaskar SS,O'Sullivan J,Baerlocher GM,Haubitz M,Aubert G,Barañano KW,Barnicoat AJ,Battini R,Berger A,Blair EM

doi

10.1038/ng.3661

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

1185-92

issue

10

eissn

1061-4036

issn

1546-1718

pii

ng.3661

journal_volume

48

pub_type

杂志文章

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