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. 2017 Jan 26;100(2):257–266. doi: 10.1016/j.ajhg.2017.01.002

Figure 1.

Figure 1

Pedigrees of the Investigated Families and Schematic Representation of the DNAJC12 Exon 4 Deletion

(A) Pedigrees of four families with mutations in DNAJC12. The mutation status of affected (closed symbols) and healthy (open symbols) family members are noted. N.D., not determined.

(B) Schematic representation of del6943 (c.298-968_503-2603del).

Exome sequencing results (top) showing the alignment of sequencing reads to the reference genome for the controls and affected individuals (A-IV-2 and D-V-1), as visualized with the Integrative Genomics Viewer (IGV) tool. Breakpoint junction sequences (bottom) are shown, depicting the 6.943 kb deletion (del6943, c.298-968_503-2603del) containing exon 4. The breakpoint junction sequence (chromatogram) is aligned with reference sequences.