A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis

Abstract Cerebrotendinous xanthomatosis (CTX, OMIM: 213700) is a rare inherited autosomal recessive lipid storage disorder with multiple system involvement. The disease is caused by mutations in the gene encoding sterol 27-hydroxylase (CYP27A1), leading to a block in bile synthesis, with accumulation of substrates for this enzyme, including cholesterol, resulting in an increase in the conversion of cholesterol to cholestanol. Clinically, CTX is characterized by tendon xanthomas, juvenile cataracts, premature atherosclerosis, and progressive neurological deficits [1]. We report the mutation analysis of a Taiwanese patient with CTX involving only the Achilles tendon.