Dang Ningning, Murrell Dédée F
Department of Dermatology, St George Hospital, Sydney, Australia.
Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x.
Dystrophic epidermolysis bullosa (DEB) is inherited in both an autosomal dominant DEB and autosomal recessive manner RDEB, both of which result from mutations in the type VII collagen gene (COL7A1). To date, 324 pathogenic mutations have been detected within COL7A1 in different variants of DEB; many mutations are clustered in exon 73 (10.74%) which is close to the 39 amino acid interruption region. Dominant dystrophic epidermolysis bullosa usually involves glycine substitutions within the triple helix of COL7A1 although other missense mutations, deletions or splice-site mutations may underlie some cases. In recessive dystrophic epidermolysis bullosa, the mutations include nonsense, splice site, deletions or insertions, 'silent' glycine substitutions within the triple helix and non-glycine missense mutations within the triple helix or non-collagenous NC-2 domain. The nature of mutations in COL7A1 and their positions correlate reasonably logically with the severity of the resulting phenotypes.
营养不良性大疱性表皮松解症（DEB）以常染色体显性DEB和常染色体隐性方式（RDEB）遗传，这两种方式均由VII型胶原蛋白基因（COL7A1）突变引起。迄今为止，已在DEB的不同变体中的COL7A1内检测到324个致病突变；许多突变聚集在外显子73（10.74%）中，该外显子靠近39个氨基酸中断区域。显性营养不良性大疱性表皮松解症通常涉及COL7A1三螺旋内的甘氨酸替代，尽管其他错义突变、缺失或剪接位点突变可能是某些病例的基础。在隐性营养不良性大疱性表皮松解症中，突变包括无义突变、剪接位点、缺失或插入、三螺旋内的“沉默”甘氨酸替代以及三螺旋或非胶原蛋白NC-2结构域内的非甘氨酸错义突变。COL7A1中突变的性质及其位置与所产生表型的严重程度在逻辑上具有合理的相关性。
