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

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; ... (2016). Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nature genetics, 48(10), pp. 1185-1192. Nature America 10.1038/ng.3661

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Hämatologie (Erwachsene)

UniBE Contributor:

Baerlocher, Gabriela M. and Haubitz, Monika

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1061-4036

Publisher:

Nature America

Language:

English

Submitter:

Katrin Kölliker-Schütz

Date Deposited:

05 Apr 2017 15:02

Last Modified:

11 May 2017 15:04

Publisher DOI:

10.1038/ng.3661

PubMed ID:

27571260

BORIS DOI:

10.7892/boris.93598

URI:

https://boris.unibe.ch/id/eprint/93598

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