Four novel CYP27A1 mutations in seven Italian patients with CTX

Autor:	P. Da Pozzo, M. T. Dotti, Elena Cardaioli, Alessandra Rufa, Andrea Mignarri, Gian Nicola Gallus, Antonio Federico
Rok vydání:	2010
Předmět:	Pathology medicine.medical_specialty business.industry Disease Cerebrotendinous Xanthomatosis Phenotype Exon Neurology CYP27A1 Medicine Neurology (clinical) Bile acid synthesis business Gene Tendon xanthomas
Zdroj:	European Journal of Neurology. 17:1259-1262
ISSN:	1351-5101
DOI:	10.1111/j.1468-1331.2010.03002.x
Popis:	Background and purpose: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27-hydroxylase deficiency. Clinical manifestations of CTX are tendon xanthomas, juvenile cataracts, osteoporosis, diarrhoea and multiple progressive neurological dysfunctions. More than 300 patients with CTX have been reported to date worldwide and about fifty different mutations identified in CYP27A1 gene. This study describes the clinical and laboratory findings of seven new patients. Methods: We report the molecular and clinical characterization of seven new Italian patients with CTX carrying four novel mutations. Results: We identified four novel mutations located in different exons, in particular in the region of exons 2–5 of the CYP27A1 gene. Phenotypical expression did not differ from classical CTX presentation except for absence of tendon xanthomas in two patients.
Databáze:	OpenAIRE
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