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

Mark McIntosh,'s picture
PubMed URL:
Crow YJ
Author List: 
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
Brunstrom-Hernandez JE
Buckard JA
Cassiman DM
Caumes R
Cordelli DM
De Waele LM
Fay AJ
Ferreira P
Fletcher NA
Fryer AE
Goel H
Hemingway CA
Henneke M
Hughes I
Jefferson RJ
Kumar R
Lagae L
Landrieu PG
Lourenço CM
Malpas TJ
Mehta SG
Metz I
Naidu S
Õunap K
Panzer A
Prabhakar P
Quaghebeur G
Schiffmann R
Sherr EH
Sinnathuray KR
Soh C
Stewart HS
Stone J
Van Esch H
Van Mol CE
Vanderver A
Wakeling EL
Whitney A
Pavitt GD
Griffiths-Jones S
Rice GI
Revy P
van der Knaap MS
Livingston JH
O'Keefe RT
Crow YJ
Nat Genet
PubMed ID: 
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.
Published Date: 
October, 2016

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