2 NEW MUTATIONS IN THE STEROL 27-HYDROXYLASE GENE IN 2 FAMILIES LEAD TO CEREBROTENDINOUS XANTHOMATOSIS

This report concerns two new mutations in the sterol 27-hydroxylase ge ne in two patients with cerebrotendinous xanthomatosis (CTX). In a Sur inam-Creole patient (patient A), a G deletion on position cDNA 546/547 in exon 3 led to a frameshift and the introduction of a premature ter mination codon. In a Dutch patient (patient B), a C-->T transition at position 496 in exon 3 also led to a premature termination codon. Pati ent A was homozygous for the mutation, whereas patient B was compound heterozygous, a C-->T transition also being found in exon 6 at positio n 1204. The two new mutations were confirmed by restriction analysis w ith the restriction enzymes FokI and MaeI, respectively.