Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis
The compound heterozygous variants c.379C > T (p. Arg127Trp) and c.397 T > C (p. Trp133Arg) in the <i>CYP27A1</i> 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.
Authors
- Lin Zhang (ORCID: https://orcid.org/0000-0001-9049-9578)
- Zhaoxia Wang (ORCID: https://orcid.org/0000-0002-8723-4242)
- Liu Qing
- Xiaodong Zhang (ORCID: https://orcid.org/0000-0002-2601-5089)
- You Guoliang
- Wang Jiangping
- Chen Xuan
- Xing Xiaolian
- Su Yangli
- Zhang Tianli
- Zhu Yanping
Institutions
- Peking University (CN)
- Peking University First Hospital (CN)
- Taiyuan Central Hospital (CN)
- University of California Davis Medical Center (US)
- UC Davis Health (US)
- UC Davis Children's Hospital (US)
- University of California, Davis (US)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2025-05-27
- DOI
- https://doi.org/10.3389/fneur.2025.1566740
- Citations
- 1
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 2.01