Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

J Invest Dermatol. 2020 Jun;140(6):1289-1292.e2. doi: 10.1016/j.jid.2019.10.014. Epub 2019 Nov 29.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alopecia / diagnosis
  • Alopecia / genetics*
  • Alopecia / metabolism
  • Alopecia / pathology
  • Arginine / genetics
  • Cholesterol / metabolism*
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Keratosis / diagnosis
  • Keratosis / genetics*
  • Keratosis / metabolism
  • Keratosis / pathology
  • Lipid Metabolism / genetics
  • Male
  • Mucous Membrane / metabolism
  • Mucous Membrane / pathology
  • Mutation
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Skin / pathology
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics*
  • Skin Abnormalities / metabolism
  • Skin Abnormalities / pathology
  • Sterol Regulatory Element Binding Protein 1 / genetics*
  • Sterol Regulatory Element Binding Protein 1 / metabolism

Substances

  • SREBF1 protein, human
  • Sterol Regulatory Element Binding Protein 1
  • Arginine
  • Cholesterol

Supplementary concepts

  • Urban Schosser Spohn syndrome