miércoles, 4 de diciembre de 2019

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis | Orphanet Journal of Rare Diseases | Full Text

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Abstract

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 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.

Conclusion

Our study broadens the genetic and clinical spectrum of CTX and provides insightful information to help better diagnose and understand the disease.

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