ArticleAmerican journal of human genetics2017
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
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 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Meta-Analysis of Mutations inGenes · 2021Pooled it
- Multi-omics unravels testis-regulated genetic mechanism of musk secretion in muskrat (Ondatra zibethicus).BMC genomics · 2026Article
- Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders.Experimental dermatology · 2026Article
- The Candle Spot: An Unreported Sign of SULT2B1-nEDD.Acta dermato-venereologica · 2026Article
- Impact of genetic polymorphisms on the sulfation of dehydroepiandrosterone and 17-β estradiol by human cytosolic sulfotransferase SULT2B1a.Pharmacogenetics and genomics · 2026Article
- Identification of Novel Mutation in theClinical case reports · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- A recurrent de novo damaging variant inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.Acta dermato-venereologica · 2025Article
- Cholesterol sulfate as a negative regulator of cellular cholesterol homeostasis.Molecules and cells · 2025Article
- Sulfotransferase SULT2B1 contributes to the epithelial-immune microenvironment homeostasis in imiquimod-induced psoriatic dermatitis.Frontiers in immunology · 2025Article
- SULT2B1: a novel therapeutic target in colorectal cancer via modulation of AKT/PKM2-mediated glycolysis and proliferation.Journal of translational medicine · 2024Article
- The role of genetic polymorphisms in the sulfation of pregnenolone by human cytosolic sulfotransferase SULT2B1a.Scientific reports · 2024Article
- Genetic Basis and Evolutionary Forces of Sexually Dimorphic Color Variation in a Toad-Headed Agamid Lizard.Molecular biology and evolution · 2024Article
- Sulfotransferase SULT2B1 facilitates colon cancer metastasis by promoting SCD1-mediated lipid metabolism.Clinical and translational medicine · 2024Article
- Human sulfotransferaseFrontiers in genetics · 2024Review
- MacrophageLife science alliance · 2023Article
- Sulfotransferase 2B1b, Sterol Sulfonation, and Disease.Pharmacological reviews · 2023Review
- Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.Clinical genetics · 2023Article
- Effect of Chronic Cadmium Exposure on Brain and Liver Transporters and Drug-Metabolizing Enzymes in Male and Female Mice Genetically Predisposed to Alzheimer's Disease.Drug metabolism and disposition: the biological fate of chemicals · 2022Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6 ARCI-affected individuals from three unrelated families with mutations in Sulfotransferase family 2B member 1 (SULT2B1), showing their causative association with ARCI. Cytosolic sulfotransferases form a large family of enzymes that are involved in the synthesis and metabolism of several steroids in humans. We identified four distinct mutations including missense, nonsense, and splice site mutations. We demonstrated the loss of SULT2B1 expression at RNA and protein levels in keratinocytes from individuals with ARCI by functional analyses. Furthermore, we succeeded in reconstructing the morphologic skin alterations in a 3D organotypic tissue culture model with SULT2B1-deficient keratinocytes and fibroblasts. By thin layer chromatography (TLC) of extracts from these organotypic cultures, we could show the absence of cholesterol sulfate, the metabolite of SULT2B1, and an increased level of cholesterol, indicating a disturbed cholesterol metabolism of the skin upon loss-of-function mutation in SULT2B1. In conclusion, our study reveals an essential role for SULT2B1 in the proper development of healthy human skin. Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism.
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