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We reported the clinical features and genetic findings of 17 X\u2010ALD patients. Fifteen variants were identified, including five novel mutations: c.700dupC (p.Arg234Profs*67), c.743G&gt;A (p.Gly248Asp), c.1469_1471delTGG (p.Val490del), c.1577C&gt;A (p.Thr526Lys), and c.1658T&gt;C (p.Leu553Pro), which were reported for the first time in X\u2010ALD patients. Functional analysis confirmed the pathogenicity of novel variants at the protein and subcellular localization level. The p.Arg234Profs*67 mutant protein was undetectable, likely due to NMD\u2010mediated mRNA degradation. This study expands the mutation spectrum and clinical profile of X\u2010ALD, suggesting a potential correlation between the extent of protein dysfunction and disease severity.<\/jats:p>","DOI":"10.1111\/cge.14752","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T22:05:41Z","timestamp":1744322741000},"page":"450-456","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel <scp><i>ABCD1<\/i><\/scp> Variants in X\u2010Linked Adrenoleukodystrophy"],"prefix":"10.1111","volume":"108","author":[{"given":"Sen\u2010Wei","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010Mei","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Hao","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gui\u2010He","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying\u2010Xuan","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng\u2010Wen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9655-9735","authenticated-orcid":false,"given":"Ning","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2175-0885","authenticated-orcid":false,"given":"Wan\u2010Jin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai\u2010Zhu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"},{"name":"Institute of Neuroscience and Fujian Key Laboratory of Molecular Neurology The First Affiliated Hospital of Fujian Medical University  Fuzhou China"},{"name":"Department of Neurology National Regional Medical Center, Binhai Campus of the First Affiliated Hospital, Fujian Medical University  Fuzhou Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2013.11.023"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2024.6771"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12944\u2010024\u201002361\u20100"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2006.07.010"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.253045118"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u201051"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/361726a0"},{"issue":"9","key":"e_1_2_8_9_1","first-page":"1761","article-title":"Adrenoleukodystrophy: A Scoring Method for Brain MR Observations","volume":"15","author":"Loes D. 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