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We report the first patient with a homozygous loss\u2010of\u2010function variant in the <jats:italic>SLC13A1<\/jats:italic> gene, encoding a renal and intestinal sulfate transporter, which is essential for maintaining plasma sulfate levels. The homozygous (Arg12Ter) variant in <jats:italic>SLC13A1<\/jats:italic> was found by exome sequencing performed in a patient with unexplained skeletal dysplasia. The main clinical features were enlargement of joints and spondylo\u2010epi\u2010metaphyseal radiological abnormalities in early childhood, which improved with age. In addition, autistic features were noted. We found profound hyposulfatemia due to complete loss of renal sulfate reabsorption. Cholesterol sulfate was reduced. Intravenous N\u2010acetylcysteine administration temporarily restored plasma sulfate levels. We conclude that loss of the <jats:italic>SLC13A1<\/jats:italic> gene leads to profound hypersulfaturia and hyposulfatemia, which is mainly associated with abnormal skeletal development, possibly predisposing to degenerative bone and joint disease. The diagnosis might be easily missed and more frequent.<\/jats:p>","DOI":"10.1111\/cge.14239","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T02:33:42Z","timestamp":1664505222000},"page":"45-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Biallelic variants in the <scp><i>SLC13A1<\/i><\/scp> sulfate transporter gene cause hyposulfatemia with a mild spondylo\u2010epi\u2010metaphyseal dysplasia"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6696-6009","authenticated-orcid":false,"given":"Jiddeke M.","family":"van de Kamp","sequence":"first","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC location Vrije Universiteit Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam The Netherlands"},{"name":"Amsterdam Gastroenterology Endocrinology Metabolism  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arend","family":"B\u00f6kenkamp","sequence":"additional","affiliation":[{"name":"Emma Children's Hospital Amsterdam UMC location Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree E. 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