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Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across <jats:italic>SNORD118<\/jats:italic> in controls, we set out to provide a description of the molecular pathology and clinical spectrum observed in a cohort of patients with LCC. We identified 64 affected individuals from 56 families. Age at presentation varied from 3\u2009weeks to 67\u2009years, with disease onset after age 40\u2009years in eight patients. Ten patients had died. We recorded 44 distinct, likely pathogenic, variants in <jats:italic>SNORD118<\/jats:italic>. Fifty two of 56 probands were compound heterozygotes, with parental consanguinity reported in only three families. Forty nine of 56 probands were either heterozygous (46) or homozygous (three) for a mutation involving one of seven nucleotides that facilitate a novel intramolecular interaction between the 5\u2032 end and 3\u2032 extension of precursor\u2010U8. There was no obvious genotype\u2013phenotype correlation to explain the marked variability in age at onset. Complementing recently published functional analyses in a zebrafish model, these data suggest that LCC most often occurs due to combinatorial severe and milder mutations, with the latter mostly affecting 3\u2032 end processing of precursor\u2010U8.<\/jats:p>","DOI":"10.1002\/ajmg.a.61907","type":"journal-article","created":{"date-parts":[[2020,10,8]],"date-time":"2020-10-08T07:06:05Z","timestamp":1602140765000},"page":"15-25","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7211-7564","authenticated-orcid":false,"given":"Yanick J","family":"Crow","sequence":"first","affiliation":[{"name":"Centre for Genomic and Experimental Medicine MRC Institute of Genetics and Molecular Medicine, University of Edinburgh  Edinburgh UK"},{"name":"Laboratory of 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