{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:06:21Z","timestamp":1792415181559,"version":"4.4.0"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data, including medical history, neurologic and auxiliary examinations, imaging studies, and genetic profiles were collected from a Chinese CTX family at Taiyuan City Central Hospital. The proband underwent whole exome sequencing, which was confirmed via Sanger sequencing in two affected and five unaffected family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two patients in the pedigree exhibited compound heterozygous missense variants in the <jats:italic>CYP27A1<\/jats:italic> gene: c.379C\u202f&amp;gt;\u202fT, (pathogenic variants) and c.397\u202fT\u202f&amp;gt;\u202fC, (a variant of uncertain clinical significance), both located in exon 2. A literature review revealed that c.1263\u202f+\u202f1G\u202f&amp;gt;\u202fA and C.379C\u202f&amp;gt;\u202fT are the most common variants in genetically diagnosed Chinese CTX patients, with exon 2 of the <jats:italic>CYP27A1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The compound heterozygous variants c.379C\u202f&amp;gt;\u202fT (p. Arg127Trp) and c.397\u202fT\u202f&amp;gt;\u202fC (p. Trp133Arg) in the <jats:italic>CYP27A1<\/jats:italic> gene are likely the cause of CTX in this pedigree. This finding expands our understanding of the genetic and clinical spectrum of CTX and provides significant insights for its diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2025.1566740","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T15:10:05Z","timestamp":1748358605000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and genetic analysis of a family with cerebrotendinous 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