Article
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Orphanet journal of rare diseases - 3 Dec 2019
Tao Qing-Qing, Zhang Yun, Lin Hui-Xia, Dong Hai-Lin, Ni Wang, Wu Zhi-Ying
Abstract excerpt
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population. RESULTS: Three novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously...
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