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. 2016 Sep 28;2016:bcr2016216922. doi: 10.1136/bcr-2016-216922

Figure 1.

Figure 1

Identification of novel XIAP mutations. (A) Whole exome sequencing was performed by TruSeq DNA sample preparation, targeting of exomes with SeqCap EZ Human Exome Library V.3.0 (Roche), and sequencing was performed on HiSeq, paired end 2×101 bp indexed. Variants were filtered using ingenuity variant analysis, and visualised using Integrative Genomics Viewer software. Variants of interest were selected on the basis of rarity and evaluation of severity by different prediction tools smart information flow technologies (SIFT), PolyPhen-2 and CADD score. (B) Variants were confirmed by Sanger sequencing. (C) Schematic presentation of the XIAP protein, the mutation in XIAP results in a frameshift after the BIR3 domain. (D) Pedigree showing the inheritance of XIAP and MEFV mutations. wt, wild-type; mt, mutant; Pt, index patient.