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

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.