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. 2015 Oct 22;2015:bcr2015211372. doi: 10.1136/bcr-2015-211372

Figure 3.

Figure 3

Genetics and pedigree. (A) WES was performed by TruSeq DNA sample preparation, targeting of exomes with SeqCap EZ Human Exome Library V.3.0 (Roche), sequencing on HiSeq, paired end 2×101 bp indexed. Reads were mapped to hg19 employing BWA and GATK. Single nucleotide polymorphisms were called employing HaplotypeCaller from the GATK package. VCF files were uploaded and analysed by Ingenuity Variant Analysis. The identified STAT1 GOF mutation at position c.800C>T results in amino acid substitution at position 267 (A267V) within the CC-domain of the STAT1 molecule. Confirmation by Sanger sequencing of the father (1), index patient (2, marked with *), son (3) and daughter (4). (B) Pedigree showing CMC disease in the grandfather, father (1) and index patient (2). CMC, chronic mucocutaneous candidiasis; GOF, gain-of-function; ND, not determined; VCF, variant call files; WES, whole exome sequencing.