Mutation analysis of the COL7A1 gene and prenatal diagnosis in two families with recessive dystrophic epidermolysis bullosa
Xu Zhe, Lin Zhimiao
Department of Dermatology, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China (Xu Z); Department of Dermatology, Peking University First Hospital, Beijing 100034, China (Lin ZM)
Xu Zhe, Lin Zhimiao. Mutation analysis of the COL7A1 gene and prenatal diagnosis in two families with recessive dystrophic epidermolysis bullosa[J]. Chinese Journal of Dermatology, 2017, 50(11): 815-819.doi:10.3760/cma.j.issn.0412-4030.2017.11.009
Jiang W, Sun TT, Lei PC, et al. Genotype⁃phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa prurigi⁃nosa[J]. Acta Derm Venereol, 2012, 92(1): 50⁃53. DOI: 10. 2340/00015555⁃1178.
[2]
Christiano AM, Hoffman GG, Zhang X, et al. Strategy for identifi⁃cation of sequence variants in COL7A1 and a novel 2⁃bp deletion mutation in recessive dystrophic epidermolysis bullosa[J]. Hum Mutat, 1997, 10(5): 408⁃414. DOI: 10.1002/(SICI)1098⁃1004(1997)10:5<408::AID⁃HUMU12>3.0.CO;2⁃3.
[3]
Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa[J]. Exp Dermatol, 2008, 17(7): 553⁃568. DOI: 10.1111/j.1600⁃0625. 2008.00723.x.
[4]
Mellerio JE, Ashton GH, Mohammedi R, et al. Allelic hetero⁃geneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa[J]. J Invest Dermatol, 1999, 112(6): 984⁃987. DOI: 10.1046/j.1523⁃1747.1999.00614.x.
Shimizu H, Hammami⁃Hauasli N, Hatta N, et al. Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracyto⁃plasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype[J]. J Invest Dermatol,1999, 113(3): 419⁃421. DOI:10.1046/j.1523⁃1747.1999.00713.x.