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Volumn 86, Issue 6, 2006, Pages 503-508

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin

Author keywords

Acitretin; Cancer; Cx26, mutation; Deafness; Genodermatosis

Indexed keywords

CONNEXIN 26; ETRETIN; RETINOID;

EID: 33845683026     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0164     Document Type: Article
Times cited : (45)

References (29)
  • 1
    • 0035985057 scopus 로고    scopus 로고
    • Structural and functional diversity of connexin genes in the mouse and human genome
    • Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Guldenagel M, et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002; 383: 725-737.
    • (2002) Biol Chem , vol.383 , pp. 725-737
    • Willecke, K.1    Eiberger, J.2    Degen, J.3    Eckardt, D.4    Romualdi, A.5    Guldenagel, M.6
  • 2
    • 0028933496 scopus 로고
    • Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congential deaf-mutism
    • Peris K, Salvati EF, Torlone G, Chimenti S. Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congential deaf-mutism. Br J Dermatol 1995; 132: 617-620.
    • (1995) Br J Dermatol , vol.132 , pp. 617-620
    • Peris, K.1    Salvati, E.F.2    Torlone, G.3    Chimenti, S.4
  • 5
    • 0019428104 scopus 로고
    • Successful treatment of keratoderma hereditaria mutilans with an aromatic retinoid
    • Chang Sing Pang AF, Oranje AP, Vuzevki VD, Stoltz E. Successful treatment of keratoderma hereditaria mutilans with an aromatic retinoid. Arch Dermatol 1981; 117: 225-228.
    • (1981) Arch Dermatol , vol.117 , pp. 225-228
    • Chang Sing Pang, A.F.1    Oranje, A.P.2    Vuzevki, V.D.3    Stoltz, E.4
  • 6
    • 0021174720 scopus 로고
    • Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin
    • Camisa C, Rossana C. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin. Arch Dermatol 1984; 120: 1323-1328.
    • (1984) Arch Dermatol , vol.120 , pp. 1323-1328
    • Camisa, C.1    Rossana, C.2
  • 7
    • 0021687216 scopus 로고
    • Mutilating palmoplantar keratoderma successfully treated with etretinate
    • Wereide K. Mutilating palmoplantar keratoderma successfully treated with etretinate. Acta Derm Venereol 1984; 64: 566-569.
    • (1984) Acta Derm Venereol , vol.64 , pp. 566-569
    • Wereide, K.1
  • 8
    • 0021833186 scopus 로고
    • Etretinate: Management of keratoma hereditaria mutilans in four family members
    • Rivers JK, Duke EE, Justus DW. Etretinate: management of keratoma hereditaria mutilans in four family members. J Am Acad Dermatol 1985; 13: 43-49.
    • (1985) J Am Acad Dermatol , vol.13 , pp. 43-49
    • Rivers, J.K.1    Duke, E.E.2    Justus, D.W.3
  • 10
    • 0013965847 scopus 로고
    • Keratoma hereditaria mutilans (Vohwinkel): Differentiating features of conditions with constriction of digits
    • Gibbs RC, Frank SB. Keratoma hereditaria mutilans (Vohwinkel): differentiating features of conditions with constriction of digits. Arch Dermatol 1966; 94: 619-625.
    • (1966) Arch Dermatol , vol.94 , pp. 619-625
    • Gibbs, R.C.1    Frank, S.B.2
  • 11
    • 0032790899 scopus 로고    scopus 로고
    • A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    • Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999; 8: 1237-1243.
    • (1999) Hum Mol Genet , vol.8 , pp. 1237-1243
    • Maestrini, E.1    Korge, B.P.2    Ocaña-Sierra, J.3    Calzolari, E.4    Cambiaghi, S.5    Scudder, P.M.6
  • 12
    • 0034022965 scopus 로고    scopus 로고
    • Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    • Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 141-144.
    • (2000) Eur J Hum Genet , vol.8 , pp. 141-144
    • Kelsell, D.P.1    Wilgoss, A.L.2    Richard, G.3    Stevens, H.P.4    Munro, C.S.5    Leigh, I.M.6
  • 14
    • 0036821529 scopus 로고    scopus 로고
    • The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar kerato derma in a Turkish family
    • Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, et al. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar kerato derma in a Turkish family. Clin Genet. 2002; 62: 306-309.
    • (2002) Clin Genet , vol.62 , pp. 306-309
    • Uyguner, O.1    Tukel, T.2    Baykal, C.3    Eris, H.4    Emiroglu, M.5    Hafiz, G.6
  • 16
    • 15844391073 scopus 로고    scopus 로고
    • A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
    • Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996; 13: 70-77.
    • (1996) Nat Genet , vol.13 , pp. 70-77
    • Maestrini, E.1    Monaco, A.P.2    McGrath, J.A.3    Ishida-Yamamoto, A.4    Camisa, C.5    Hovnanian, A.6
  • 17
    • 0034099846 scopus 로고    scopus 로고
    • A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
    • Heathcote K, Syrris P, Carter ND, Patton, MA. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 2000; 37: 50-51.
    • (2000) J Med Genet , vol.37 , pp. 50-51
    • Heathcote, K.1    Syrris, P.2    Carter, N.D.3    Patton, M.A.4
  • 18
    • 18344395853 scopus 로고    scopus 로고
    • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    • Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002; 70: 1341-1348.
    • (2002) Am J Hum Genet , vol.70 , pp. 1341-1348
    • Richard, G.1    Rouan, F.2    Willoughby, C.E.3    Brown, N.4    Chung, P.5    Ryynänen, M.6
  • 20
    • 0036230429 scopus 로고    scopus 로고
    • A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    • van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 2002; 118: 724-727.
    • (2002) J Invest Dermatol , vol.118 , pp. 724-727
    • Van Steensel, M.A.1    Van Geel, M.2    Nahuys, M.3    Smitt, J.H.4    Steijlen, P.M.5
  • 21
    • 0038701033 scopus 로고    scopus 로고
    • De novo mutation in the gene encoding connexin-26 (GJB2) in a sproadic case of keratitis-ichtyosis-deafness (KID) syndrome
    • Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, et al. De novo mutation in the gene encoding connexin-26 (GJB2) in a sproadic case of keratitis-ichtyosis-deafness (KID) syndrome. Am J Med Genet 2003; 117A: 89-91.
    • (2003) Am J Med Genet , vol.117 A , pp. 89-91
    • Alvarez, A.1    Del Castillo, I.2    Pera, A.3    Villamar, M.4    Moreno-Pelayo, M.A.5    Moreno, F.6
  • 22
    • 0037565175 scopus 로고    scopus 로고
    • Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichtyosis-deafness syndrome
    • Yotsumoto S, Hashiguchi T, Chen X Ohtaki N, Tomitaka A, Akamatsu H, et al. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichtyosis-deafness syndrome. Br J Dermatol 2003; 148: 649-653.
    • (2003) Br J Dermatol , vol.148 , pp. 649-653
    • Yotsumoto, S.1    Hashiguchi, T.2    Chen, X.3    Ohtaki, N.4    Tomitaka, A.5    Akamatsu, H.6
  • 23
    • 10744220912 scopus 로고    scopus 로고
    • A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness
    • Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, et al. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness. J Invest Dermatol 2003; 121: 1221-1223.
    • (2003) J Invest Dermatol , vol.121 , pp. 1221-1223
    • Brown, C.W.1    Levy, M.L.2    Flaitz, C.M.3    Reid, B.S.4    Manolidis, S.5    Hebert, A.A.6
  • 24
    • 0037715161 scopus 로고    scopus 로고
    • Connexin gene pathology
    • Richard G. Connexin gene pathology. Clin Exp Dermatol 2003; 28: 397-409.
    • (2003) Clin Exp Dermatol , vol.28 , pp. 397-409
    • Richard, G.1
  • 25
    • 2442446948 scopus 로고    scopus 로고
    • Genetic heterogeneity of KID syndrome: Identification of a Cx30 Gene (GJB6) mutation in a patient with KID syndrome and congenital atricia
    • Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Genetic heterogeneity of KID syndrome: identification of a Cx30 Gene (GJB6) mutation in a patient with KID syndrome and congenital atricia. J Invest Dermatol 2004; 122: 1108-1113.
    • (2004) J Invest Dermatol , vol.122 , pp. 1108-1113
    • Jan, A.Y.1    Amin, S.2    Ratajczak, P.3    Richard, G.4    Sybert, V.P.5
  • 26
    • 0034961003 scopus 로고    scopus 로고
    • Trans-dominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation
    • Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, et al. Trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci. 2001; 114: 2105-2113.
    • (2001) J Cell Sci , vol.114 , pp. 2105-2113
    • Rouan, F.1    White, T.W.2    Brown, N.3    Taylor, A.M.4    Lucke, T.W.5    Paul, D.L.6
  • 27
    • 0042309578 scopus 로고    scopus 로고
    • Targeted epidermal expression of mutant connexion 26 (D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders
    • Bakirtzis G, Choudhry R, Aasen T, Shore L, Brown K, Bryson S, et al. Targeted epidermal expression of mutant connexion 26 (D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Hum Mol Genet 2003; 12: 1737-1744.
    • (2003) Hum Mol Genet , vol.12 , pp. 1737-1744
    • Bakirtzis, G.1    Choudhry, R.2    Aasen, T.3    Shore, L.4    Brown, K.5    Bryson, S.6
  • 29
    • 6344225698 scopus 로고    scopus 로고
    • Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey Syndrome is caused by a novel missense mutation in GJB2
    • Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey Syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 2004; 123: 856-863.
    • (2004) J Invest Dermatol , vol.123 , pp. 856-863
    • Richard, G.1    Brown, N.2    Ishida-Yamamoto, A.3    Krol, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.