红细胞生成性原卟啉病一家系基因突变分析  

A Pedigree with Erythropoietic Protoporphyria and Detection of Gene Mutations

作　　者：孙钰桢 张江安[1] 于建斌[1] 刘莉娜 孔祥东[2] 袁梦瑾 何江曼 辛伍艳 孙莉婷 SUN Yuzhen;ZHANG Jiang'an;YU Jianbin;LIU Lina;KONG Xiangdong;YUAN Mengjin;HE Jiangman;XIN Wuyan;SUN Liting(Department of Dermatology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Center of Genetic and Prenatal Diagnosis,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450046,China)

机构地区：[1]郑州大学第一附属医院皮肤科,河南郑州450052 [2]郑州大学第一附属医院遗传与产前诊断中心,河南郑州450046

出　　处：《中国皮肤性病学杂志》2021年第4期393-396,412,共5页The Chinese Journal of Dermatovenereology

摘　　要：目的探讨红细胞生成性原卟啉病一家系的临床表现及基因突变的特点。方法收集家系先证者及其他成员的临床资料,对先证者及其家系中部分成员进行Wood灯及基因测序检查。结果先证者婴幼儿期发病,皮损表现为面部、手背部红斑、丘疹、糜烂、结痂,局部可见蜡样增厚,并形成浅表的线形瘢痕,其父亲和姑姑有类似症状。Wood灯下先证者舌为红色。基因检查发现先证者及其父亲的FECH基因存在1个杂合突变:c.832C>T(p.Q278X)。结论收集到国内一红细胞生成性原卟啉病家系,并在FECH基因发现一突变位点:c.832C>T,该突变位点为国内首次报道。Objective To analyse the clinical manifestation and gene mutation of a Chinese family with erythropoietic protoporphyria.Methods The clinical data of the proband and other members of the family was collected,and the proband and some members of the family were examined by Wood lamp and gene sequencing.Results The disease developed in infancy of the proband,and the skin lesions showed erythema,papules,erosion and crust on the face and back of the hands,waxy thickening and superficial linear scar locally,and his father and aunt had similar symptoms.The proband's tongue was red under the Wood lamp.Genetic examination showed a heterozygous mutation c.832C>T(p.Q278X)in FECH gene of the proband and his father.Conclusion A Chinese family with erythropoietic protoporphyria disease is reported,and a mutation site c.832C>T is found in FECH gene,which is reported for the first time in China.

关 键 词：红细胞生成性原卟啉病 FECH基因 基因突变 

分 类 号：R589.8[医药卫生—内分泌]