DSP基因突变致皮肤脆性-羊毛状发综合征1例并文献复习

 目的 报告1例以皮肤脆性增加、少毛、厚甲为主要临床特征的遗传性皮肤病病例，并寻找其致病基因及突变位点。方法 收集病例临床资料，采集患者及父母外周血，提取基因组DNA，进行遗传性皮肤病基因靶向二代测序，过滤无效变异，Sanger测序验证可疑致病基因突变。结果 在患者血液基因组DNA中检测到桥粒斑蛋白编码基因DSP基因的c.3805C>T（p.R1269*）和c.7568_7571delAGAC（p.T2524Afs*36）复合杂合突变，父母分别携带其中一个杂合突变位点。结合致病基因及临床表现，患者被诊断为皮肤脆性-羊毛状发综合征。结论 DSP基因双等位基因功能缺失性突变很可能为患者出现皮肤表型的原因。

Skin fragility,hair abnormality and pachyonychia caused by DSP mutations:a case report and literature review

Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his parents. Genomic DNA was extracted from the peripheral blood. Targeted next generation sequencing for genodermatoses causative genes was performed, followed by filtration out benign variants. Candidate variants were further verified by Sanger sequencing. Results The patient harbored compound heterozygous mutations［c.3805C>T (p.R1269*) and c.7568_7571delAGAC (p.T2524Afs*36)］ in the DSP gene, which encodes desmoplakin. A diagnosis of skin fragility woolly hair syndrome was made. Conclusion Biallelic loss of mutations in DSP is probably responsible for the patient’s phenotype.