两例营养不良型大疱性表皮松解症的家系调查及基因突变检测报道

摘要

Objective Family investigation on dominant dystrophic epidermolysis bullosa and detection of the mutation of COL7A1 gene are reported. Methods Collecting genealogical information and analyzing the clinical characteristic of two DEB family probands. Investigating the skin basement membrane zone of two probands based on histologic evidences and transmissional electron microscope(TEM) studies. Then using PCR and DNA sequencing to identificate the mutations of COL7A1 gene. Results The probands of two DEB family pedigrees are in line with autosomal recesstive inheritance. The proband of the first family were found reduced numbers of anchoring fibrils and basal keratinocyte vacuolization below the lamina densa of the basement membrane zone. Out of 26 members of 4 generations in the pedigree only the first proband, his parents were consanguineous marriage. The proband of the second family was also found absent or rudimentary anchoring fibrils below the lamina densa of the basement membrane zone. Out of 20 members of 3 generations in the pedigree only the second proband. The COL7A1 gene mutation have not dicovered as others' reported in Chinese patients. Conclusion Although the two probands are recessfive dystrophic epidermolysis bullosa, but there are differences in clinical mandestations. The proband of family 1 diagnosed as RDEB, generalizedd other, The proband of family 2 diagnosed as RDEB, severe gene1ralized.%目的 两例营养不良型大疱性表皮松解症(DEB)患者的家系调查及Ⅶ型胶原基因(COL7A1)突变检测结果报道.方法 收集家系资料,根据先证者临床表现、皮损组织病理及透射电镜检查结果判断家系先证者发病类型,用PCR扩增先证者COL7A1基因,产物直接测序筛查突变位点.结果 两家系先证者同属于常染色体隐件遗传;家系1先证者皮损组织锚原纤维数量减少,基底角质形成细胞空泡化,家系4代26名成员中仅先证者一人发病,父母为近亲结婚.家系2先证者皮损组织锚原纤维明显减少或消失,该家系3代20名成员中仅先证者一人发病,家族中无近亲结婚.在两先证者中均未检出COL7A1基因突变位点.结论 两个先证者同属常染色体隐性遗传营养不良型大疱性表皮松解症(RDEB),家系1先证者为RDEB其他泛发型;家系2先证者为RDEB重症泛发型.