眼皮肤白化病Ⅲ型TYRP1基因的新突变  

A Novel Mutation of the TYRP1 Gene in Oculocutaneous Albinism Type 3

作　　者：邢玉莹 郑利雄 任利成 孙兆军 卢军 张江林 李青 周荣华 阳芳 董文武 XING Yuying;ZHENG Lixiong;REN Liheng;SUN Zhaojun;LU Jun;ZHANG Jianglin;LI Qing;ZHOU Ronghua;YANG Fang;DONG Wenwu(Department of Dermatology,Shenzhen People's Hospital,the First Affiliated Hospital of Southern University of Science and Technology,the Second Clinical Medical College of Jinan University,Shenzhen 518020,China;School of Medicine,Southern University of Science and Technology,Shenzhen 518055,China)

机构地区：[1]深圳市人民医院(南方科技大学第一附属医院,暨南大学第二临床医学院)皮肤科,广东深圳518020 [2]南方科技大学医学院,广东深圳518055

出　　处：《中国皮肤性病学杂志》2024年第11期1203-1207,共5页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金项目(82203941);深圳市科创委面上项目(JCYJ20220530151815035)。

摘　　要：目的对1例临床疑似白化病的患者进行遗传学分析,明确致病基因。方法收集患者临床资料,提取患者及其父母外周血DNA,使用全外显子组高通量测序技术筛查患者致病基因。对患者及其父母的变异位点进行Sanger测序验证,并对变异位点的致病性进行分析预测。结果全外显子测序结果发现,患者TYRP1基因存在c.1057_1060del(p.N353Vfs*31)和c.1210C>T(p.H404Y)复合杂合突变,分别遗传自其母亲和父亲,符合眼皮肤白化病Ⅲ型(OCA3)常染色体隐性遗传模式,且生物信息学预测分别为致病和可能致病变异位点。结论患者为TYRP1基因的复合杂合突变引起的OCA3,该复合变异导致的OCA3病例在国内外尚未见文献报道,其中变异位点c.1210C>T(p.H404Y)为全球首报。Objective To perform genetic analysis on a patient with suspected albinism to identify the pathogenic gene.Methods Clinical data of the patient were collected and peripheral blood DNA was extracted from the patient and her parents.Pathogenic genes were screened using whole exome high-throughput sequencing technology and Sanger sequencing was performed to validate the variant loci of the patient and her parents.The pathogenicity of the variant loci was analyzed and predicted.Results Whole exome sequencing revealed that the patient had heterozygous mutations c.1057_1060del(p.N353Vfs*31)andc.1210C>T(p.H404Y)in the gene TYRP1.These mutations were inherited from the patient's mother and father,respectively,conformed to the autosomal recessive mode of inheritance of oculocutaneous albinism type 3(OCA3).Besides,bioinformatics tools were used to predict pathogenic and potentially pathogenic sites,respectively.ConclusionThe patient is diagnosed as OCA3 caused by a compound heterozygous mutation in the TYRP1 gene,which has not been reported in the literature in China and abroad.It is the first reported variant locus c.1210C>T(p.H404Y)in OCA3.

关 键 词：眼皮肤白化病Ⅲ型 TYRP1基因 基因突变 全外显子测序技术 

分 类 号：R758.54[医药卫生—皮肤病学与性病学]