Figure 2 | Scientific Reports

Figure 2

From: Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

Figure 2

Family inheritance analysis of two rare intronic MYBPC3 variants identified in the index patient. Sanger DNA chromatograms testing the MYBPC3 c.292+177C>T variant in intron 2 (a) and the MYBPC3 c.3311−26T>G variant in intron 30 (b) are shown. DNA chromatograms from the index patient (II.5) revealed the presence of both nucleotide substitutions in the heterozygous state, thus independently confirming the massively parallel sequencing results (see Supplementary Fig. S1). Sequence analyses of four family members of the III generation are also shown: one index patient’s son (III.1) and three daughters (III.4, III.6 and III.7). Two of them inherited from their mother the MYBPC3 variant in intron 2 (III.1, III.7) and the other two (III.4, III6) the MYBPC3 variant in intron 30. The complete family testing results are presented in Fig. 1. Arrows indicate the position of the affected nucleotide. The intron–exon boundary (i30-E31) is marked with a dotted line.

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