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. 2017 Feb 15;25(5):646–650. doi: 10.1038/ejhg.2017.5

Figure 2.

Figure 2

MCM5 gene variants identified in our case. (a) The two panels show the IGV screenshots relative to the c.850_851del (upper panel) and the c.1397C>T (lower panel) variants in patient's DNA. Gray bars represent the mapped reads aligned to the reference genome, which sequence is shown below (colored). A coverage plot is displayed in the upper part of each panel. (b) The results of Sanger sequencing of exons 7 (upper panel) and 11 (lower panel) of the MCM5 gene are shown for the proband (Pb), his father (F) and mother (M). The c.850_851del deletion (upper panel) was detected in the paternal DNA, whereas the c.1397C>T variant (lower panel) was maternally inherited. The altered nucleotides are indicated by arrows. MCM5 RefSeq accession number: NM_006739.3.