PREMATURE TERMINATION CODON AT THE STEROL 27-HYDROXYLASE GENE CAUSES CEREBROTENDINOUS XANTHOMATOSIS IN A FRENCH FAMILY

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-s torage 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 pos ition 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 Fr ench family. The mutation creates a new site for the restriction endon uclease HaeIII.