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

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...

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Detalles Bibliográficos
Autores principales: Wu, Li, Zhang, Yajie, Zi, Juan, Yan, Yinyan, Yu, Lihua, Lin, Danna, Huang, Lulu, Lai, Xiaorong, Liao, Xu, Yang, Lihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9360485/
https://www.ncbi.nlm.nih.gov/pubmed/35958175
http://dx.doi.org/10.3389/fped.2022.940618
Descripción
Sumario: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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