常染色体隐性遗传念珠状发1例及DSG4基因突变分析  

A case of autosome recessive monilethrix and mutation analysis of DSG4gene

作　　者：储开宇[1] 王键旋[1] 钟敏华 毛荣军[2] 罗文峰[1] CHU Kaiyu;WANG Jianxuan;ZHONG Minhua;MAO Rongjun;LUO Wenfeng(Department of Dermatology,Foshan Hospital of TCM,Foshan 528000,China;Department of Pathology,Foshan Hospital of TCM,Foshan 528000,China)

机构地区：[1]佛山市中医院皮肤科,广东佛山528000 [2]佛山市中医院病理科,广东佛山528000

出　　处：《临床皮肤科杂志》2024年第11期651-654,共4页Journal of Clinical Dermatology

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。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 us-ing 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 heierozygosity 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 DSG4 gene 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.

关 键 词：常染色体隐性遗传 念珠状发 桥粒芯糖蛋白4 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]