Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Spectrum of previously identified variations within the validation cohort of 11 patients. 11 patients already tested by Sanger sequencing of ERCC6(CSB) and/or ERCC8(CSA) genes were explored by targeted NGS strategy. All 63 previously identified single base variations were identified in their correct heterozygous/homozygous state. A heterozygous 4.6 Mb deletion of chromosome 10q11, encompassing the whole ERCC6(CSB) gene, was clearly detected but the method was not sensitive enough to detect an ERCC6(CSB) deletion limited to the first two exons of the gene. (XLSX 14 kb)

11例患者验证队列中已明确的变异谱。针对11例已通过桑格测序（Sanger sequencing）检测ERCC6(CSB)及/或ERCC8(CSA)基因的患者，采用靶向二代测序（targeted NGS）策略开展分析。所有63种已明确的单碱基变异均以正确的杂合/纯合状态被检出。可清晰检出累及整条ERCC6(CSB)基因的10号染色体10q11区域杂合性4.6 Mb缺失，但该方法无法灵敏检测仅局限于该基因前两个外显子的ERCC6(CSB)缺失。(XLSX 14 kb)