自我改善型火棉胶鱼鳞病患儿1例临床表现及ALOX12B基因突变检测  

Detection of Clinical Phenotype and ALOX12B Gene Mutation in a Child with Self-Improving Colloidal Ichthyosis

作　　者：余云秋 周忠 YU Yunqiu;ZHOU Zhong(Department of Pediatrics,Xiangyang No.1 People's Hospital,Hubei University of Medicine,Xiangyang 441000,China)

机构地区：[1]湖北医药学院附属襄阳市第一人民医院儿科,湖北襄阳441000

出　　处：《中国皮肤性病学杂志》2023年第12期1363-1367,共5页The Chinese Journal of Dermatovenereology

基　　金：襄阳市科学技术局项目(2022YL27A)。

摘　　要：目的 探讨自我改善型火棉胶鱼鳞病(self-improving collodion ichthyosis, SICI)患儿的临床及遗传特征。方法 收集1例SICI患儿的临床资料。采集患儿及其父母静脉血,提取外周血DNA,利用全基因组外显子捕获测序(WES)查找病因,用Sanger测序法验证阳性结果,利用(Mutation Taster, mT)、Polymorphism Phenotyping v2(PolyPhen-2)、Sorting Intolerant from Tolerant(SIFT)及GERP++等生物信息软件预测变异致病性及保守性。结果 患儿为37+3周新生儿,出生时表现为全身皮肤潮红,呈羊皮纸样改变,伴有少量细碎鳞屑。WES结果表明,患儿ALOX12B基因存在c.1973C>T(p.Pro658Leu)和c.217C>T(p.Arg73Trp)的复合杂合变异,其父亲携带c.217C>T杂合变异,母亲携带c.1973C>T杂合变异。通过与数据库比对,患儿ALOX12B基因变异为未见报道的新变异,生物信息软件预测其为有害变异。根据临床表现和遗传学发现,患儿确诊为SICI。结论 ALOX12B基因的c.1973C>T及c.217C>T复合杂合变异为患儿致病原因。本研究结果扩展了ALOX12B基因变异谱,为鱼鳞病预后分析及遗传咨询提供了理论依据。Objective To explore the clinical and genetic characteristics of a child with self-improving collodion ichthyosis(SICI).Methods Clinical data of the patient was analyzed.Venous blood samples were collected from the patient and his parents.Peripheral blood DNA was extracted to identify the etiology by whole-exome capture sequencing(WES).Candidate variants were confirmed by Sanger sequencing.Biogenic softwaresuch as Mutation Taster,Poly Phen2,SIFT and GERP++were used to predict mutation pathogenicity and conservation.Results The patient was a 37+3 neonate who was born with a flushing of the whole body skin withparchment-like changes and a small amount of finely divided scales.WES revealed that he had harbored compound heterozygous variants c.1973C>T(p.Pro658Leu)and c.217 C>T(p.Arg73Trp)of the ALOX12B gene,which were respectively inherited from his father and mother.After comparison with the database,the patient's ALOX12B gene mutation was a new mutation that had not been reported,and the bioinformation software predicted that it was a harmful mutation.Based on the clinical presentation and genetic findings,the patient was diagnosed with SICI.Conclusion The c.1973C>T and c.217 C>T variants of the ALOX12B gene probably underlay the SICI in this patient.Above findings have extended the ALOX12B gene mutation spectrum,and provided a theoretical basis for prognosis analysis and genetic counseling of ichthyosis.

关 键 词：火棉胶鱼鳞病 自我改善型 ALOX12B基因 复合杂合变异 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]