Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

Figure 1

The identified mutations of patient 5. Both c.3809A>T (causing amino acid change p.Ala1270Ile) and c.1707+2dupT mutations are confirmed by Sanger-sequencing. The 3809A>C and A>G mutations are known, but the A>T substitution is a novel alteration at this position. (a1) Visualizing the alignment of the sequencing reads covering the ATP7B c.3809A>T heterozygous point mutation. The coverage was 400-fold (211-fold reference and 189-fold variant coverage). (b1) Validating our finding with Sanger sequencing, red arrow indicates the position of the point mutation. The mutation is present in both directions. (a2) Visualizing the alignment of the sequencing reads covering the ATP7B c.1707+2dupT heterozygous insertion mutation. The coverage was 399-fold (188-fold reference and 211-fold variant coverage). (b2) Validating our finding with Sanger-sequencing, red arrow indicates the position of the insertion. The mutation is present in both directions.