Genetic Conditions > palmoplantar keratoderma with deafness >

References

These sources were used to develop the Genetics Home Reference condition summary on palmoplantar keratoderma with deafness.

Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802. doi: 10.1002/ajmg.a.33464. PubMed citation
Caria H, Matos T, Oliveira-Soares R, Santos AR, Galhardo I, Soares-Almeida L, Dias O, Andrea M, Correia C, Fialho G. A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma. J Eur Acad Dermatol Venereol. 2005 Jul;19(4):455-8. PubMed citation
de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet. 2008 Mar;45(3):161-6. Epub 2007 Nov 9. PubMed citation
de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J Pathol. 2008 Oct;173(4):1113-9. doi: 10.2353/ajpath.2008.080049. Epub 2008 Sep 11. PubMed citation
Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabédian EN, Marlin S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am J Med Genet A. 2005 Aug 30;137(2):225-7. PubMed citation
Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, Giannini P, Delfino M, Ciccodicola A, Marciano E, Franzé A. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Am J Med Genet A. 2009 Feb 15;149A(4):685-8. doi: 10.1002/ajmg.a.32462. PubMed citation
Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review. PubMed citation
Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean Med Sci. 2010 Oct;25(10):1539-42. doi: 10.3346/jkms.2010.25.10.1539. Epub 2010 Sep 17. PubMed citation
Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B. Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. Review. PubMed citation
Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Review. PubMed citation
Yuan Y, Huang D, Yu F, Zhu X, Kang D, Yuan H, Han D, Dai P. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma. Am J Med Genet A. 2009 Feb 15;149A(4):689-92. doi: 10.1002/ajmg.a.32461. PubMed citation


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