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. 2015 Aug 4;10(8):e0133020. doi: 10.1371/journal.pone.0133020

Fig 2. Sanger sequencing of germline mutations identified in WRN, DICER1, and ELAC2.

Fig 2

(A) Sanger sequencing validation of WRN frameshift mutation in each individual. The aligned NGS data of WRN mutation from the mother (I:1). The WRN frameshift mutation presented a 1-bp deletion in chr8:31024663. The bases after A are shown in red, and the A→C point mutation in chr8:31024666 is shown in blue. The WRN frameshift mutation c.4108DelA (p.N1370Tfs*23) was validated by Sanger sequencing in the mother (I:1), the proband (II:1), the second daughter (II:2), and the youngest daughter (II:5); however, it was absent in the other two daughters (II:3 and II:4). (B) The DICER1 missense mutation c.A3334G (p.N1112D) was validated by Sanger sequencing in the mother (I:1) and the second daughter (II:2), but it was absent in the other members of this family. (C) The ELAC2 mutation c.A248G (p.Y83C) was validated by Sanger sequencing in all the members of this family.