{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:06:09Z","timestamp":1792073169658,"version":"4.4.0"},"reference-count":64,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T00:00:00Z","timestamp":1642118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute of Health","award":["K23NS118044 to EM"],"award-info":[{"award-number":["K23NS118044 to EM"]}]},{"name":"Netherlands Organization for Scientific Research","award":["016.196.310 to ME"],"award-info":[{"award-number":["016.196.310 to ME"]}]},{"name":"Netherlands Organization for Health Research and Development","award":["543002004 to SK"],"award-info":[{"award-number":["543002004 to SK"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding transporter for very-long-chain fatty acids. The clinical spectrum of ALD includes adrenal insufficiency, myelopathy, and\/or leukodystrophy. A complicating factor in disease management is the absence of a genotype\u2013phenotype correlation in ALD. Since 1999, most ABCD1 (likely) pathogenic and benign variants have been reported in the ABCD1 Variant Database. In 2017, following the expansion of ALD newborn screening, the database was rebuilt. To add an additional level of confidence with respect to pathogenicity, for each variant, it now also reports the number of cases identified and, where available, experimental data supporting the pathogenicity of the variant. The website also provides information on a number of ALD-related topics in several languages. Here, we provide an updated analysis of the known variants in ABCD1. The order of pathogenic variant frequency, overall clustering of disease-causing variants in exons 1\u20132 (transmembrane domain spanning region) and 6\u20139 (ATP-binding domain), and the most commonly reported pathogenic variant p.Gln472Argfs*83 in exon 5 are consistent with the initial reports of the mutation database. Novel insights include nonrandom clustering of high-density missense variant hotspots within exons 1, 2, 6, 8, and 9. Perhaps more importantly, we illustrate the importance of collaboration and utility of the database as a scientific, clinical, and ALD-community-wide resource.<\/jats:p>","DOI":"10.3390\/cells11020283","type":"journal-article","created":{"date-parts":[[2022,1,14]],"date-time":"2022-01-14T12:34:04Z","timestamp":1642163644000},"page":"283","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2678-8807","authenticated-orcid":false,"given":"Eric J.","family":"Mallack","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, New York, NY 10065, USA"},{"name":"Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Child Neurology, Weill Cornell Medical College, NewYork-Presbyterian Hospital, New York, NY 10065, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Engelen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2023-064X","authenticated-orcid":false,"given":"Stephan","family":"Kemp","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Emma Children\u2019s Hospital, Amsterdam University Medical Centers, Amsterdam Neuroscience, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands"},{"name":"Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Center, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1038\/361726a0","article-title":"Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters","volume":"361","author":"Mosser","year":"1993","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1006\/geno.1994.1339","article-title":"Genomic organization of the adrenoleukodystrophy gene","volume":"22","author":"Sarde","year":"1994","journal-title":"Genomics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1093\/hmg\/3.2.265","article-title":"The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein","volume":"3","author":"Mosser","year":"1994","journal-title":"Hum. 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