Abstract
BackgroundCerebrotendinous 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.ResultsThree novel likely pathogenic mutations (c.368_374delCCAGTAC, c.389 T > A and c.571C > T) and 7 previously reported pathogenic mutations (c.379C > T, c.435G > T, c.1016C > T, c.1214G > A, c.1263 + 1G > A, c.1420C > T and c.1435C > T) were identified. In addition, we summarized the genotypes and phenotypes of reported Chinese CTX patients. The most predominant mutations in CYP27A1 were c.410G > A and c.379C > T, and the most common clinical manifestations were pyramidal signs, xanthomatosis, cerebellar ataxia, and cognitive impairment.ConclusionOur study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.
Highlights
Cerebrotendinous xanthomatosis (CTX) (OMIM: 213700) is a rare inborn lipid-storage disease, characterized by accumulation of cholestanol-containing xanthomas predominantly in tendons and the brain [1]
Literature review We reviewed all of the CTX patients reported in the Chinese population from 1992 to April 31, 2019
The 3 novel variants were not found in the 1000 Genomes Project and the ExAC databases. They were not found in our targeted next-generation sequencing (NGS) database that covered CYP27A1, which contained 800 Chinese subjects without CTX
Summary
Cerebrotendinous xanthomatosis (CTX) (OMIM: 213700) is a rare inborn lipid-storage disease, characterized by accumulation of cholestanol-containing xanthomas predominantly in tendons and the brain [1]. CTX is caused by mutations in the sterol 27hydroxylase gene (CYP27A1) [2]. In the Chinese population, only 19 patients from 16 families have been reported [16,17,18,19,20,21,22,23,24,25,26,27]. 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. Only 19 CTX patients from 16 families have been reported in the Chinese population
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