Fig. 2.

Expression of the paternal derived de novo NDN variant in case M2922 with a maternal imprinted NDN allele. a Phasing the de novo NDN variant through inspection of the BAM sequencing files. Screenshot from genome viewer with alignment sorted by allele at c.838 showing nearby maternally inherited SNP rs2192206 (‘c.858 T allele’) in distinct sequence reads than the de novo variant (‘c.838 C allele’) suggesting the mutation occurred on the paternal allele. b Sanger confirmation of the c.838G > C NDN variant and the nearby synonymous SNP (rs2192206): c.858C > T, and sequencing of fibroblast cDNA confirms de novo inheritance and monoallelic cDNA expression of the variant. This confirms that the de novo variant in the proband occurs on the paternally derived allele and imprinting silences the maternally derived reference allele