Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

• Published in: Human genetics Vol. 100; no. 2; pp. 284 - 286
• Main Authors: VERRIPS, A, STEENBERGEN-SPANJERS, G. C. H, LUYTEN, J. A. F. M, WEVERS, R. A, WOKKE, J. H. J, GABREËLS, F. J. M, WOLTHERS, B. G, VAN DEN HEUVEL, L. P. W. J
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.08.1997; Berlin; New York, NY
• Subjects: Adult; Biological and medical sciences; Cholestanetriol 26-Monooxygenase; Cytochrome P-450 Enzyme System - genetics; Errors of metabolism; Exons - genetics; Female; Humans; Male; Medical sciences; Metabolic diseases; Middle Aged; Miscellaneous hereditary metabolic disorders; Netherlands - epidemiology; Point Mutation; Polymorphism, Single-Stranded Conformational; RNA Splicing - genetics; Steroid Hydroxylases - genetics; Xanthomatosis, Cerebrotendinous - epidemiology; Xanthomatosis, Cerebrotendinous - etiology; Xanthomatosis, Cerebrotendinous - genetics; Human; Xanthomatosis; Nervous system diseases; Cytochrome P450; Diseases of the osteoarticular system; Metabolic diseases; Enzymopathy; Genetic disease; Gene; Exon skipping; Deletion; Genetics; Mutation; Brain (vertebrata); Tendon
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390050506

We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.