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首页> 外文期刊>Human mutation >Next generation sequencing identifies double homozygous mutations in two distinct genes ( EXPH5 EXPH5 and COL17A1 COL17A1 ) in a patient with concomitant simplex and junctional epidermolysis bullosa
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Next generation sequencing identifies double homozygous mutations in two distinct genes ( EXPH5 EXPH5 and COL17A1 COL17A1 ) in a patient with concomitant simplex and junctional epidermolysis bullosa

机译：下一代测序在患者中鉴定了两个不同基因（Exph5 Exph5和Col17A1Col17A1）中的双纯合突变，伴随着单纯克斯和结exidermolyalseBlow

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摘要

Abstract Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering diseases. We developed a next generation sequencing (NGS) panel covering 21 genes associated with skin fragility disorders, and it was applied to DNA from 91 probands with the diagnosis of EB. In one patient, novel homozygous mutations were disclosed in two different, unlinked EB‐associated genes: EXPH5 , chr11 g.108510085G??A; p.Arg1808Ter and COL17A1 , chr10 g.104077423delT; p.Thr68LeufsTer106. Consequences of the COL17A1 mutation were examined by RNAseq which revealed a complex splicing pattern predicting synthesis of a truncated polypeptide (85%) or in‐frame deletion of exon 4 (15% of transcripts). Transmission electron microscopy (TEM) and immunostaining revealed findings consistent with EB simplex (EBS) and junctional EB (JEB), and clinical examination revealed a complex phenotype with features of both subtypes. This case illustrates the power of next generation sequencing in identifying mutations in patients with complex EB phenotype, with implications for genotype–phenotype correlations, prenatal testing, and genetic counseling of families at risk for recurrence.
机译：摘要表皮溶解Bullosa（EB）是一群异质的遗传性遗传性疾病。我们开发了一种覆盖与皮肤脆性障碍相关的21个基因的下一代测序（NGS）面板，并从91个证据施加DNA，诊断为EB。在一名患者中，在两种不同的未链接的EB相关基因中公开了新的纯合突变：EXPH5，CHR11G.108510085Gα＆GT; P.ARG1808TER和COL17A1，CHR10 G.104077423DELT; P.Thr68Leufster106。通过RNAILEQ检查了COL17A1突变的后果，所述RNA族突出显示复杂的剪接图案，预测截短的多肽（85％）或外显子4（15％转录物）的内框内缺失的合成。透射电子显微镜（TEM）和免疫染色显示与EB单纯x（EB）和结eB（JEB）一致的结果，临床检查显示了两种亚型特征的复杂表型。这种情况说明了下一代测序在鉴定复合EB表型的患者突变中的功率，具有用于基因型 - 表型相关性，产前检测和因疾病的基因型表型相关性，产前试验和遗传咨询。

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