【摘要】 目的：对常染色体隐性遗传念珠状发1例患儿及其父母进行桥粒芯糖蛋白（DSG）4基因突变分析。方法：提取患儿、患儿父母的DNA样本，采用二代皮肤靶向测序包检测患儿的突变基因，对发现的突变位点应用Sanger测序对患儿及其父母进行验证。结果：基因测序显示患儿DSG4基因存在2～16号外显子杂合缺失，并且DSG4基因内含子15存在1个杂合变异c.2355+1G>A；患儿父亲DSG4基因2～16号外显子杂合缺失突变；患儿母亲携带DSG4基因c.2355+1G>A杂合突变；100例健康人对照DSG4基因均未发现上述位点突变。结合患儿临床特征及基因检测结果，最终诊断为常染色体隐性遗传念珠状发。结论：本研究进一步证实了常染色体隐性遗传念珠状发的临床特征和DSG4基因变异，丰富了该病的遗传和临床数据。更多还原

【Abstract】 Objective: To analyze DSG4 gene mutation in a child with autosome recessive monilethrix and her parents.Methods: The DNA samples of the child and her parents were extracted, and the mutation genes of the child were detected using a second-generation skin targeted sequencing package. The mutation sites discovered in the gene were validated using Sanger sequencing for the child and her parents. Results: Gene sequencing showed a loss of heterozygosity in exon 2-16 of DSG4 gene,and there was a heterozygosity variation of c. 2355+1G>A in intron 15 of DSG4 gene. Her father had a heterozygous deletion mutation in exons 2-16 of the DSG4 gene. Her mother carried a c.2355+1G>A heterozygous mutation in the DSG4 gene. The DSG4gene mutation was not found in 100 healthy controls. According to the clinical characteristics and genetic testing results of the child, a diagnosis was made as autosome recessive monilethrix. Conclusion: This case confirmed the clinical characteristics of autosome recessive monilethrix due to variation in DSG4 gene, thus enriching the genetic and clinical data of the disease.更多还原