ArticleAmerican journal of human genetics2017
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed.
- Palmoplantar Keratoderma: A Mechanism-Based Disease Classification.Clinical, cosmetic and investigational dermatology · 2026Article
- A recurrent de novo damaging variant inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- The bioactive sphingolipid playbook. A primer for the uninitiated as well as sphingolipidologists.Journal of lipid research · 2025Review
- Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.The British journal of dermatology · 2025Article
- Don't Be Surprised When These Surprise You: Some Infrequently Studied Sphingoid Bases, Metabolites, and Factors That Should Be Kept in Mind During Sphingolipidomic Studies.International journal of molecular sciences · 2025Review
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- The genetic and molecular basis of a connexin-linked skin disease.The Biochemical journal · 2024Review
- Article
- PIM kinases regulate early human Th17 cell differentiation.Cell reports · 2023Article
- The biological functions of sphingolipids in plant pathogenic fungi.PLoS pathogens · 2023Review
- Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis.Biomedicines · 2023Review
- Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease : Cascades of Secondary Metabolic Errors Can Generate Complex Pathologies (in LSDs).Advances in neurobiology · 2023Article
- Mysterious sphingolipids: metabolic interrelationships at the center of pathophysiology.Frontiers in physiology · 2023Review
- Associations between forensic loci and expression levels of neighboring genes may compromise medical privacy.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Article
- Convergent evolution of bacterial ceramide synthesis.Nature chemical biology · 2022Article
- 3-Ketodihydrosphingosine reductase maintains ER homeostasis and unfolded protein response in leukemia.Leukemia · 2022Article
- Interrogation of Carboxy-Terminus LocalizedInternational journal of molecular sciences · 2022Article
- Case report: Compound heterozygous mutations in theFrontiers in pediatrics · 2022Article
- Ceramides in Skin Health and Disease: An Update.American journal of clinical dermatology · 2021Review
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
The discovery of new genetic determinants of inherited skin disorders has been instrumental to the understanding of epidermal function, differentiation, and renewal. Here, we show that mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. This disorder is characterized by severe lesions of thick scaly skin on the face and genitals and thickened, red, and scaly skin on the hands and feet. Although exome sequencing revealed several of the KDSR mutations, we employed genome sequencing to discover a pathogenic 346 kb inversion in multiple probands, and cDNA sequencing and a splicing assay established that two mutations, including a recurrent silent third base change, cause exon skipping. Immunohistochemistry and yeast complementation studies demonstrated that the mutations cause defects in KDSR function. Systemic isotretinoin therapy has achieved nearly complete resolution in the two probands in whom it has been applied, consistent with the effects of retinoic acid on alternative pathways for ceramide generation.
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Registered trials
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