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2016, Número 3

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Rev Invest Clin 2016; 68 (3)


Llethal keratitis, ichthyosis, and deafness syndrome due to the A88V connexin 26 Mutation

Esmer C, Salas-Alanis JC, Fajardo-Ramirez OR, Ramírez B, Hua R, Choate K
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Idioma: Ingles.
Referencias bibliográficas: 20
Paginas: 143-146
Archivo PDF: 181.49 Kb.


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REFERENCIAS (EN ESTE ARTÍCULO)

  1. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Derm. 1981;117:285-9.

  2. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, et al. Keratitis- ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007;156:1015-19.

  3. Mhaske PV, Levit NA, Li L, et al. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol. 2013;304:1150-58.

  4. Xu J, Nicholson, BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013;1828:167-78.

  5. Gerido DA, DeRosa AM, Richard G, White TW. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol. 2007;293:337-45.

  6. Lee JR, Derosa AM, White TW. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol. 2009;129:870-8.

  7. Stong BC, Chang Q, Ahmad S, Lin X. A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope. 2006;116:2205-10.

  8. Janecke AR, Hennies HC, Gunther B, et al. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet. 2005;133:128-31.

  9. Haruna K, Suga Y, Oizumi A, et al. Severe form of keratitis-ichthyosis- deafness (KID) syndrome associated with septic complications. J Dermatol. 2010;37:680-2.

  10. Helm K, Lane AT, Orosz J, Metlay L. Systemic cytomegalovirus in a patient with the keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol. 1990;7:54-6.

  11. de Berker D, Branford WA, Soucek S, Michaels L. Fatal keratitis ichthyosis and deafness syndrome (KIDS). Aural, ocular, and cutaneous histopathology. Am J Dermatopathol. 1993;15:64-9.

  12. Sbidian E, Feldmann D, Bengoa J, et al. Germline mosaicism in keratitis-ichthyosis-deafness syndrome: prenatal diagnosis in a familial lethal form. Clin Genet. 2010;77:587-92.

  13. Mallory SB, Haynie LS, Williams ML, Hall W. Ichthyosis, deafness, and Hirschsprung’s disease. Pediatr Dermatol. 1989;6:24-7.

  14. Gilliam A, Williams ML. Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol. 2002;19:232-6.

  15. Koppelhus U, Tranebjaerg L, Esberg G, et al. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin Exp Dermatol. 2011;36:142-8.

  16. Bassetto F, Tiengo C, Sferrazza R, Belloni-Fortina A, Alaibac M. Vohwinkel syndrome: treatment of pseudo-ainhum. Int J Dermatol. 2010;49:79-82.

  17. Scott CA, Tattersall D, O’Toole EA, Kelsell DP. Connexins in epidermal homeostasis and skin disease. Biochim Biophys Acta. 2012;1818:1952-61.

  18. Levit NA, Mese G, Basaly MG, White TW. Pathological hemichannels associated with human Cx26 mutations causing Keratitis- Ichthyosis-Deafness syndrome. Biochim Biophys Acta. 2012;1818:2014-19.

  19. Meigh L, Hussain N, Mulkey DK, Dale N. Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. Elife. 2014;25;3:e04249.

  20. Koval M. Drowning out communication. Focus on “The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis- deafness syndrome display increased hemichannel activity”. Am J Physiol Cell Physiol. 2013;304:1129-30.




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