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International Journal of General Medicine Volume 14, 2021 - Issue
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Case Series

A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita

Li Gong1 Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China;2 The First Clinical Medical College of Shanxi Medical University, Taiyuan, People’s Republic of China
,
Shuping Guo1 Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China
,
Detong Wang3 Tonghua Hospital of Traditional Chinese Medicine, Tonghua, People’s Republic of China
,
Ting Wang4 Department of Dermatology, Shanxi Hospital of Integrated Traditional and Western Integrated Medicine, Taiyuan, People’s Republic of China
,
Xiaoli Ren1 Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China
,
Yuting Yuan1 Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China;2 The First Clinical Medical College of Shanxi Medical University, Taiyuan, People’s Republic of ChinaORCID Iconhttps://orcid.org/0000-0003-3238-9287
ORCID Icon &
Hongzhou Cui1 Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of ChinaCorrespondence[email protected]
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Pages 903-907 | Published online: 17 Mar 2021

References

  • Chiriac A, Murgu A, Rusu C, et al. First report of pachyonychia congenita type PC‐K6a in the Romanian population. Maedica. 2017;12(2):123‐126.
  • Leachman SA, Kaspar RL, Fleckman P, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10(1):3–17. doi:10.1111/j.1087-0024.2005.10202.x
  • Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatol. 2014;150:146–153. doi:10.1001/jamadermatol.2013.6448
  • Bowden PE, Haley JL, Kansky A, et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995;10(3):363–365. doi:10.1038/ng0795-363
  • Jackson AD, Lawler SD. Pachyonychia congenita; a report of six cases in one family, with a note on linkage data. Ann Eugen. 1951;16:142–146. doi:10.1111/j.1469-1809.1951.tb02468.x
  • Irwin MWH, David HC, Eliason Mark J, et al. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatology. 2011;131(5):1015–1017. doi:10.1038/jid.2011.59
  • Leachman Sancy A, Kaspar Roger L, Philip F, et al. Clinical and pathological features of pachyonychia congenita. J Invest Dermatology Symp Proce. 2005;10(1):3–17.
  • Herrmann H, Strelkov SV, Burkhard P, Aebi U. Intermediate filaments: primary determinants of cell architecture and plasticity. J Clin Invest. 2009;119(7):1772–1783. doi:10.1172/JCI38214
  • Eliason M, Feng BJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol. 2012;67(4):680‐686. doi:10.1016/j.jaad.2011.12.009
  • Katkar DP, Kadam SB, Mote BN, Adhav AS. Subblock level monitoring in leprosy programme: need of the hour. Indian J Dermatol Venereol Leprol. 2017;83(1):94‐95. doi:10.4103/0378-6323.191131
  • Bai Z-L, Feng Y-G, Tan -S-S, et al. Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. Br J Dermatology. 2008;159(1):238–240. doi:10.1111/j.1365-2133.2008.08603.x
  • Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L. Pachyonychia congenita: a spectrum of KRT6a mutations in australian patients. Pediatr Dermatol. 2016;33(3):337–342. doi:10.1111/pde.12841
  • Fu T, Leachman SA, Wilson NJ, et al. Genotype-phenotype correlations among pachy -onychia congenita patients with K16 mutations. J Invest Dermatol. 2011;131(5):1025–1028. doi:10.1038/jid.2010.373
  • Samuelov L, Smith FJ, Hansen D, et al. Pachyonychia congenita: a case-cohort study of 815 patients. Br J Dermatol. 2019;182(3):738–746. doi:10.1111/bjd.18794
  • Smith FJ, Liao H, Cassidy AJ, et al. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:21–30.
  • Bai ZL, Feng YG, Tan SS, et al. Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families. Br J Dermatol. 2008;159(1):238–240.
  • Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011;508(2):123–137. doi:10.1016/j.abb.2010.12.019
  • Wilson AK, Coulombe PA, Fuchs E. The roles of K5 and K14 head, tail, and R/KLLEGE domains in keratin filament assembly in vitro. J Cell Biol. 1992;119(2):401–414. doi:10.1083/jcb.119.2.401
  • Ghazawi FM, Hassani-Ardakani K, Henriques L, et al. Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2. Int J Dermatol. 2019;58(2):233–236. doi:10.1111/ijd.14082
  • Xu Q, Zhang Q, Tang L, et al. A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures. J Cosmet Dermatol. 2019;18(6):1930–1934. doi:10.1111/jocd.12905
  • Banerjee S, Wu Q, Ying Y, et al. In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses. Oncotarget. 2016;7(33):52766–52780. doi:10.18632/oncotarget.10599
  • Perez‐Perez L, Allegue F, Alfonsin N, Caeiro JL, Fabeiro JM, Zulaica A. Identification of two recurrent mutations in keratin genes in three cases with pachyonychia congenita. J Eur Acad Dermatol Venereol. 2009;23(2):172‐174. doi:10.1111/j.1468-3083.2008.02751.x
  • Liao H, Sayers JM, Wilson NJ, et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007;48(3):199‐205. doi:10.1016/j.jdermsci.2007.07.003

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