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A 261 kb copy number variant was discovered at chr5:125844053‐126105052, upstream of LMNB1 as depicted. The deletion overlies a putative enhancer region for LMNB1 and five prior patients who are heterozygous for deletions overlying this area have been reported in the literature and share the autosomal dominant adult‐onset demyelinating leukodystrophy phenotype (this is based on information from the UCSC genome browser assembly GRCh37/hg19)
