Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris

Abstract

Supplementary material to article by C. Has et al. "Target-sequence Capture and High Throughput Sequencing Identify a de novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris"Fig. S1.(a) Partial genomic sequence of CARD14 exon 4 in the patient and his parents.The mutation is indicated by an arrow and the respective codon is underlined.(b) Immunohistochemical staining for CD3, CD4, CD8, Ki67 and (c) LEKTI in the patient and a control skin.Bars: 100 µm.Ethylenediaminetetraacetic acid (EDTA)-blood using the QiAmp DNA mini kit (Qiagen, Hilden, Germany).The sequencing was performed on an Illumina MiSeq ® sequencer using MiSeq Reagent Kit V2 (2×150 bp).The fraction of target bases with at least 50 reads was ~97%.Variant calling was performed using GATK (ver.3.1-1-g07a4bf8) and the variants were annotated using ANNOVAR (version date 2013-11-12).Primary antibodies were for CD3 clone F7.2.38, CD4 clone 4B12, CD8 clone C8/144B (Abcam, Cambridge, UK).