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

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This study identifies mutations in a small RNA gene (SNORD118/U8) as the cause of a rare brain condition called leukoencephalopathy with calcifications and cysts (LCC), which may be of background interest to 16p11.2 families since the 16p11.2 region contains snoRNA genes and understanding how snoRNA dysfunction affects brain health could provide broader context for neurological symptoms seen in 16p deletions and duplications.