Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

H Segev; A Reshef; V Clavey; C Delbart; G Routier; E Leitersdorf

doi:10.1007/BF00209413

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

Hum Genet. 1995 Feb;95(2):238-40. doi: 10.1007/BF00209413.

Authors

H Segev¹, A Reshef, V Clavey, C Delbart, G Routier, E Leitersdorf

Affiliation

¹ Division of Medicine, Hadassah University Hospital, Jerusalem, Israel.

PMID: 7860076
DOI: 10.1007/BF00209413

Abstract

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene (CYP27). So far several mutations causing CTX have been identified and characterized. A new mutation creating an insertion of cytosine at position 6 in the cDNA, which is expected to result in a frameshift and a premature termination codon at codon 179, has been identified in a French family. The mutation creates a new site for the restriction endonuclease HaeIII.

Publication types

Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Adult
Base Sequence
Brain Diseases / genetics*
Child
Cholestanetriol 26-Monooxygenase
Codon, Terminator / genetics*
Cytochrome P-450 Enzyme System / genetics*
Female
France
Humans
Male
Molecular Sequence Data
Pedigree
Steroid Hydroxylases / genetics*
Xanthomatosis / genetics*

Substances

Codon, Terminator
Cytochrome P-450 Enzyme System
Steroid Hydroxylases
CYP27A1 protein, human
Cholestanetriol 26-Monooxygenase