摘要
目的报道1例掌跖角化病,确定其致病基因,协助临床明确诊断并确定疾病分型。方法收集患者的临床资料及外周血,提取基因组DNA,利用全外显子高通量测序确定患者的致病突变,应用Sanger测序验证突变位点的真实性。结果该患者存在SERINB7基因c.455G>T(p.Gly152Val)和c.796C>T(p.Arg266Ter)复合杂合突变,其父为c.455G>T杂合突变携带者,而无c.796C>T突变,其母为c.796C>T杂合突变而不携带c.455G>T突变。结合患者自幼掌趾弥漫性潮红的临床表现,患者诊断为长岛型掌跖角化病。结论SERPINB7基因的c.455G>T和c.796C>T复合杂合突变是该例长岛型掌跖角化病患者的致病原因。本研究明确了该患者诊断及疾病分型,并根据患者需要提供了遗传咨询。
Objective To report a case of Nagashima-type palmoplantar keratoderma(NPPK),identify pathogenic gene,and assist clinical diagnosis and classification of this disease.Methods Clinical data of the patient were collected.Genomic DNA was extracted from the patient′s peripheral blood sample.Whole exome high-throughput sequencing was used to identify the pathogenic mutation,and Sanger sequencing was applied to verify the mutation site.Results Heterozygous mutations of c.455G>T(p.Gly152Val)and c.796C>T(p.Arg266Ter)were found in the patient.The patient′s father was a heterozygous carrier of the mutation c.455G>T without the c.796C>T mutation,and his mother was a heterozygous carrier of the mutation c.796C>T without the c.455G>T mutation.Together with the clinical manifestations of diffuse erythema on the palms and toes since childhood,the patient was diagnosed with NPPK.Conclusions The c.455G>T and c.796C>T heterozygous mutations in the SERPINB7 gene are the pathogenic cause of NPPK in this patient.The diagnosis and disease type of the patient are clarified,and genetic counseling is provided according to the patient′s request.
作者
曹园园
袁召君
靳传洋
王天姿
廖晓捷
刘红
CAO Yuanyuan;YUAN Zhaojun;JIN Chuanyang;WANG Tianzi;LIAO Xiaojie;LIU Hong(Hospital for Skin Diseases,Shandong First Medical University;Shandong Provincial Institute of Dermatology and Venereology,Shandong Academy of Medical Sciences,Jinan 250022,China)
出处
《皮肤性病诊疗学杂志》
2025年第1期23-27,共5页
Journal of Diagnosis and Therapy on Dermato-venereology
作者简介
通信作者: 刘红,主任医师,博士生导师,E-mail:hongyue2519@hotmail.com。
