Partial Dominance of a Keratin 14 Mutation in Epidermolysis Bullosa Simplex — Increased Severity of Disease in a Homozygote

Albers, 1989, Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments, J Cell Biol, 108, 1477, 10.1083/jcb.108.4.1477 Bonifas, 1994, Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis, J Invest Dermatol, 103, 474, 10.1111/1523-1747.ep12395570 Bonifas, 1991, Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities, Science, 254, 1202, 10.1126/science.1720261 Bowden, 1995, Mutation of a type II keratin gene (K6a) in pachyonychia congenita, Nat Genet, 10, 363, 10.1038/ng0795-363 Chan, 1994, A human keratin 14 “knockout”: the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein, Genes Dev, 8, 2574, 10.1101/gad.8.21.2574 Chan, 1993, The genetic basis of Weber-Cockayne epidemolysis bullosa simplex, Proc Natl Acad Sci USA, 90, 7414, 10.1073/pnas.90.15.7414 Chan, 1994, Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex, J Cell Sci, 107, 765, 10.1242/jcs.107.4.765 Chen, 1995, Keratin 14 gene mutations in patients with epidermolysis bullosa simplex, J Invest Dermatol, 105, 629, 10.1111/1523-1747.ep12323846 Chen, 1993, A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: D375, Hum Mol Genet, 2, 1971, 10.1093/hmg/2.11.1971 Cheng, 1992, The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes, Cell, 70, 811, 10.1016/0092-8674(92)90314-3 Chipev, 1992, A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis, Cell, 70, 821, 10.1016/0092-8674(92)90315-4 Christiano, 1996, Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa, Exp Dermatol, 5, 1, 10.1111/j.1600-0625.1996.tb00086.x Coulombe, 1991, Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses, Cell, 66, 1301, 10.1016/0092-8674(91)90051-Y Coulombe, 1991, A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases, J Cell Biol, 115, 1661, 10.1083/jcb.115.6.1661 Dong, 1993, Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex, Hum Mutat, 2, 94, 10.1002/humu.1380020206 Ehrlich, 1995, A common keratin 5 gene mutation in epidermolysis bullosa simplex-Weber-Cockayne, J Invest Dermatol, 104, 877, 10.1111/1523-1747.ep12607050 Fine, 1991, Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa, J Am Acad Dermatol, 24, 119, 10.1016/0190-9622(91)70021-S Fine, 1989, Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety, Pediatr Dermatol, 6, 1, 10.1111/j.1525-1470.1989.tb00256.x Fine, 1989, Autosomal recessive epidermolysis bullosa simplex, Arch Dermatol, 125, 931, 10.1001/archderm.1989.01670190065007 Hovnanian, 1993, A missense mutation in the rod domain of keratin-14 associated with recessive epidermolysis bullosa simplex, Nat Genet, 3, 327, 10.1038/ng0493-327 Humphries, 1993, A mutation (Met-to-Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex, Hum Mutat, 2, 37, 10.1002/humu.1380020107 Kartasova, 1993, Mouse differentiation-specific keratins 1 and 10 require a preexisting keratin scaffold to form a filament network, J Cell Biol, 120, 1251, 10.1083/jcb.120.5.1251 Kletter, 1989, Congenital muscular dystrophy and epidermolysis bullosa simplex, J Pediatr, 114, 104, 10.1016/S0022-3476(89)80614-6 Lane, 1992, A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering, Nature, 356, 244, 10.1038/356244a0 Lloyd, 1995, The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14, J Cell Biol, 129, 1329, 10.1083/jcb.129.5.1329 McLean, 1994, Mutations in the rod IA domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE), J Invest Dermatol, 102, 2430, 10.1111/1523-1747.ep12371726 McLean, 1995, Keratin 16 and keratin 17 mutations cause pachyonychia congenita, Nat Genet, 9, 273, 10.1038/ng0395-273 Niemi, 1988, Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance, Arch Dermatol, 124, 551, 10.1001/archderm.1988.01670040053022 Reis, 1994, Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK), Nat Genet, 6, 174, 10.1038/ng0294-174 Richard, 1995, Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus, Net Genet, 11, 453, 10.1038/ng1295-453 Rothnagel, 1992, Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis, Science, 257, 1128, 10.1126/science.257.5073.1128 Rothnagel, 1994, Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens, Nat Genet, 7, 485, 10.1038/ng0894-485 Rugg, 1994, A functional “knockout” of human keratin 14, Genes Dev, 8, 2563, 10.1101/gad.8.21.2563 Rugg, 1995, A mutation in the mucosal keratin K4 is associated with oral white sponge nevus, Nat Genet, 11, 450, 10.1038/ng1295-450 Rugg, 1993, Missing Links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function, Nat Genet, 5, 294, 10.1038/ng1193-294 Salih, 1985, Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa, Br J Dermatol, 113, 135, 10.1111/j.1365-2133.1985.tb02055.x Shamsher, 1995, Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families, Hum Mol Genet, 4, 1875, 10.1093/hmg/4.10.1875 Smith, 1990, Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa, J Invest Dermatol, 94, 261, 10.1111/1523-1747.ep12874614 Stephens, 1993, A keratin 14 mutation hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis, J Invest Dermatol, 101, 240, 10.1111/1523-1747.ep12365079 Stephens, 1995, Epidermolysis bullosa simplex: a keratin 5 mution is a fully dominant allele in epidermal cytoskeleton function, Am J Hum Genet, 56, 577 Vassar, 1991, Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease, Cell, 64, 365, 10.1016/0092-8674(91)90645-F Weerdt, 1972, Incidence of hereditary dystrophic bullous epidermolysis and progressive muscular dystrophy in one family, Ned Tijdschr Geneeskd, 116, 1264 Wilkie, 1994, The molecular basis of genetic dominance, J Med Genet, 31, 89, 10.1136/jmg.31.2.89 Yamanishi, 1994, A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex, Hum Mol Genet, 3, 1171, 10.1093/hmg/3.7.1171