Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Acta Derm Venereol. 2019 Jul 1;99(9):828-830. doi: 10.2340/00015555-3162.
No abstract available

Keywords: female; high-throughput nucleotide sequencing; X-linked ichthyosis.

Publication types

  • Case Reports

MeSH terms

  • Adoption*
  • Child
  • Codon, Nonsense*
  • DNA Mutational Analysis / methods*
  • Female
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing*
  • Homozygote*
  • Humans
  • Ichthyosis, X-Linked / diagnosis
  • Ichthyosis, X-Linked / enzymology
  • Ichthyosis, X-Linked / genetics*
  • Phenotype
  • Predictive Value of Tests
  • Steryl-Sulfatase / genetics*

Substances

  • Codon, Nonsense
  • STS protein, human
  • Steryl-Sulfatase