Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: Further evidence for a mutational hot spot Academic Article uri icon


MeSH Major

  • Ectodermal Dysplasia
  • Keratins
  • Nails, Malformed
  • Skin Diseases


  • Pachyonychia congenita (PC) is a rare, autosomal dominant, ectodermal dysplasia characterized most distinctly by the presence of symmetric nail hypertrophy. In the Jadassohn-Lewandowsky form, or PC-1, additional cutaneous manifestations may include palmoplantar hyperkeratosis, hyperhidrosis, follicular keratoses, and oral leukokeratosis. Mutations have previously been identified in the 1A helix initiation motif of either keratin 6 or keratin 16 in patients with PC-1. In the current study, we have identified 2 sporadic, heterozygous mutations in the 1A helix region of the K6 isoform (K6a). The first mutation identified was a 3 base pair deletion (K6adelta N171). The second mutation was a C-to-A transversion resulting in an amino acid substitution (K6a N171K). These data, in combination with previous reports, provide further evidence that this location is a mutational hot spot.

publication date

  • May 3, 1999



  • Academic Article



  • eng

PubMed ID

  • 10232401

Additional Document Info

start page

  • 115

end page

  • 9


  • 8


  • 2