KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family

Journal of Investigative Dermatology

Volumn 136, Issue 9, 2016, Pages 1897-1901

  Vahidnezhad, Hassan ^a,b   Youssefian, Leila ^b   Saeidian, Amir Hossein ^b   Mozafari, Nikoo ^c   Barzegar, Mohammadreza ^c   Sotoudeh, Soheila ^d   Daneshpazhooh, Maryam ^e   Isaian, Anna ^f   Zeinali, Sirous ^a   Uitto, Jouni ^b  

^a PASTEUR INSTITUTE OF IRAN   (Iran)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5; KRT14 PROTEIN, HUMAN; KRT5 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CODON; DELETION MUTANT; EPIDERMOLYSIS BULLOSA SIMPLEX; FAMILY; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; BIOPSY; COHORT ANALYSIS; FEMALE; GENETICS; INHERITANCE; IRAN; MALE; MUTATION; PATHOLOGY; SKIN; WHOLE GENOME SEQUENCING;

BIOPSY; COHORT STUDIES; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETIC HETEROGENEITY; HUMANS; INHERITANCE PATTERNS; IRAN; KERATIN-14; KERATIN-5; MALE; MUTATION; PEDIGREE; PHENOTYPE; SKIN; WHOLE GENOME SEQUENCING;

EID: 84992505021     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.05.106     Document Type: Article

References (22)

1. Barzegar, M., Asadi-Kani, Z., Mozafari, N., Vahidnezhad, H., Kariminejad, A., Toossi, P., Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran. Int J Dermatol 54 (2015), e416–e423.
2. Batta, K., Rugg, E.L., Wilson, N.J., West, N., Goodyear, H., Lane, E.B., et al. A keratin 14 ‘knockout’ mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. Br J Dermatol 143 (2000), 621–627.
3. Boente, M.D., Nanda, A., Baselaga, P.A., Kelsell, D.P., McGrath, J.A., South, A.P., Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP. [e-pub ahead of print] Br J Dermatol, 2016 http://dx.doi.org/10.1111/bjd.14617.
4. Corden, L.D., Mellerio, J.E., Gratian, M.J., Eady, R.A., Harper, J.I., Lacour, M., et al. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat 11 (1998), 279–285.
5. Coulombe, P.A., Hutton, M.E., Letai, A., Hebert, A., Paller, A.S., Fuchs, E., Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66 (1991), 1301–1311.
6. Coulombe, P.A., Kerns, M.L., Fuchs, E., Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Invest 119 (2009), 1784–1793.
7. Coulombe, P.A., Lee, C.H., Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath. J Invest Dermatol 132 (2012), 763–775.
8. Fine, J.D., Bruckner-Tuderman, L., Eady, R.A., Bauer, E.A., Bauer, J.W., Has, C., et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol 70 (2014), 1103–1126.
9. Garcia, M., Santiago, J.L., Terron, A., Hernandez-Martin, A., Vicente, A., Fortuny, C., et al. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. Br J Dermatol 165 (2011), 683–692.
10. Groves, R.W., Liu, L., Dopping-Hepenstal, P.J., Markus, H.S., Lovell, P.A., Ozoemena, L., et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 130 (2010), 1551–1557.
11. Has, C., Sparta, G., Kiritsi, D., Weibel, L., Moeller, A., Vega-Warner, V., et al. Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 366 (2012), 1508–1514.
12. Kowalewski, C., Hamada, T., Wozniak, K., Kawano, Y., Szczecinska, W., Yasumoto, S., et al. A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist. Int J Mol Med 20 (2007), 75–78.
13. Lane, E.B., Rugg, E.L., Navsaria, H., Leigh, I.M., Heagerty, A.H., Ishida-Yamamoto, A., et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356 (1992), 244–246.
14. Liovic, M., Bowden, P.E., Marks, R., Komel, R., A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. Exp Dermatol 13 (2004), 332–334.
15. Livingston, R.J., Sybert, V.P., Smith, L.T., Dale, B.A., Presland, R.B., Stephens, K., Expression of a truncated keratin 5 may contribute to severe palmar—plantar hyperkeratosis in epidermolysis bullosa simplex patients. J Invest Dermatol 116 (2001), 970–974.
16. Rugg, E.L., Horn, H.M., Smith, F.J., Wilson, N.J., Hill, A.J., Magee, G.J., et al. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. J Invest Dermatol 127 (2007), 574–580.
17. Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A.E., Mellerio, J.E., et al. The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. J Invest Dermatol 136 (2016), 719–721.
18. Titeux, M., Mazereeuw-Hautier, J., Hadj-Rabia, S., Prost, C., Tonasso, L., Fraitag, S., et al. Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene. J Invest Dermatol 126 (2006), 773–776.
19. Uitto, J., Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies. Acta Derm Venereol 89 (2009), 228–235.
20. Uitto, J., Bruckner-Tuderman, L., Christiano, A.M., McGrath, J.A., Has, C., South, A.P., et al. Progress towards treatment and cure of epidermolysis bullosa: Summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol 136 (2016), 352–358.
21. Uitto, J., Vahidnezhad, H., Youssefian, L., Genotypic heterogeneity and the mode of inheritance in epidermolysis bullosa. JAMA Dermatol 152 (2016), 517–520.
22. Youssefian, L., Vahidnezhad, H., Barzegar, M., Li, Q., Sotoudeh, S., Yazdanfar, A., et al. The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. J Invest Dermatol 135 (2015), 1447–1450.