A new SPINK5 mutation in a patient with Netherton syndrome: a case report

Pediatr Dermatol. 2012 Jul-Aug;29(4):521-2. doi: 10.1111/j.1525-1470.2011.01525.x. Epub 2011 Jun 22.

Abstract

We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Exons / genetics
  • Facies
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics*
  • Male
  • Netherton Syndrome / genetics*
  • Point Mutation*
  • Proteinase Inhibitory Proteins, Secretory / genetics*
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Young Adult

Substances

  • Proteinase Inhibitory Proteins, Secretory
  • SPINK5 protein, human
  • Serine Peptidase Inhibitor Kazal-Type 5