常染色体显性遗传性皮肤松弛症1例及基因突变检测  

Autosomal Dominant Cutis Laxa and Detection of Gene Mutation

作　　者：李杨世玉 苏畅[2] 陈佳佳[2] 吴雪[1] 黄爱 陈永兴 卫海燕[1] LI Yangshiyu;SU Chang;CHEN Jiajia;WU Xue;HUANG Ai;CHEN Yongxing;WEI Haiyan(Department of Endocrinology,Genetics and Metabolism,Zhengzhou Children′s Hospital,Henan Children′s Hospital,Children′s Hospital Affiliated to Zhengzhou University,Zhengzhou 450000,China;Department of Endocrinology,Genetic and Metabolism,Beijing Children′s Hospital Affiliated to Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]郑州大学附属儿童医院河南省儿童医院郑州儿童医院内分泌遗传代谢科,河南郑州450000 [2]国家儿童医学中心首都医科大学附属北京儿童医院内分泌遗传代谢科,北京100045

出　　处：《中国皮肤性病学杂志》2024年第4期394-397,共4页The Chinese Journal of Dermatovenereology

基　　金：国家区域医疗中心开放课题项目(NRMC0106)。

摘　　要：目的探讨1例常染色体显性遗传皮肤松弛症(ADCL)患儿致病基因及表型。方法收集ADCL患儿临床资料,采用全外显子测序技术对患儿及其父母行基因检测,并通过Sanger测序进行验证。结果患儿为15岁女性,眼角、口角、面颊及颈部皮肤松弛下垂明显,呈“猎犬貌”,腋窝、腹股沟及膝关节处可见皮肤松弛下垂皱褶。测序结果示患儿ELN基因第33号外显子存在c.2318delG(p.G773fs*40)移码变异,受检人父亲、母亲该位点均无变异,为新发变异。根据美国医学遗传学与基因组学学会(ACMG)指南,该变异为可能致病性变异(PVS1 Moderate+PM2+PS2)。结论ELN基因第33号外显子c.2318delG(p.G773fs*40)杂合变异为新发变异,本研究结果扩展了ELN基因变异的致病位点。Objective To investigate the pathogenic gene and phenotype of a case with autosomal dominant cutis laxa(ADCL).Methods The clinical data of children with ADCL were collected,the genes of the children and their parents were detected by whole exon sequencing and verified by Sanger sequencing.Results The patient was a 15-year-old female,the corners of her eyes,mouth,cheeks and neck of the skin sagging notably,showing a“hound dog appearance”and the armpit,groin and knee joints with skin wrinkles.The sequencing results showed that there was c.2318delG(p.G773fs*40)frameshift mutation in exon 33 of the ELN gene in this patient,and there was no mutation in this site in her father and mother which was de novo Mutation.According to the American College of Medical Genetics and Genomics(ACMG)guidelines,this variant is a likely pathogenic variant(PVS1 Moderate+PM2+PS2).Conclusion The heterozygous variation in exon 33 of the ELN gene,c.2318delG(p.G773fs*40)is a de novo mutation which expands the pathogenic site of the ELN gene variation.

关 键 词：常染色体显性遗传性皮肤松弛症 皮肤松弛症 ELN基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]