Four novel CYP27A1 mutations in seven Italian patients with CTX

• DOI: 10.1111/j.1468-1331.2010.03002.x
• Publication Date: 2010-04-09T03:50:48Z
• Authors: G. N. Gallus; M. T. Dotti; A. Mignarri; A. Rufa; P. Da Pozzo; E. Cardaioli; A. Federico
• Keywords: Cerebrotendinous Xanthomatosis; CYP27A1; Compound heterozygosity

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27-hydroxylase deficiency. Clinical manifestations CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and multiple progressive neurological dysfunctions. More than 300 patients with have been reported to date worldwide about fifty different mutations identified in CYP27A1 gene. This study describes the clinical laboratory findings seven new patients.We report molecular characterization Italian carrying four novel mutations.We located exons, particular region exons 2-5 Phenotypical expression did not differ from classical presentation except for absence xanthomas two patients.