Frontiers in Pediatrics (Jul 2022)

Case report: Compound heterozygous mutations in the KDSR gene cause progressive keratodermia and thrombocytopenia

  • Li Wu,
  • Yajie Zhang,
  • Juan Zi,
  • Yinyan Yan,
  • Lihua Yu,
  • Danna Lin,
  • Lulu Huang,
  • Xiaorong Lai,
  • Xu Liao,
  • Lihua Yang

DOI
https://doi.org/10.3389/fped.2022.940618
Journal volume & issue
Vol. 10

Abstract

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KDSR (3-ketodihydrosphingosine reductase) is a short-chain dehydrogenase located in the endoplasmic reticulum. Mutations in KDSR cause defects in ceramides, which play a key role in the biological processes of the skin and other tissues. Herein, we report a case of compound heterozygous mutations in KDSR that caused progressive keratodermia and thrombocytopenia in a 2-year-old male patient.

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