Document Detail

Four novel CYP27A1 mutations in seven Italian patients with CTX.
MedLine Citation:
PMID:  20402754     Owner:  NLM     Status:  MEDLINE    
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.
G N Gallus; M T Dotti; A Mignarri; A Rufa; P Da Pozzo; E Cardaioli; A Federico
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  17     ISSN:  1468-1331     ISO Abbreviation:  Eur. J. Neurol.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-23     Completed Date:  2011-06-28     Revised Date:  2012-01-30    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1259-62     Citation Subset:  IM    
Copyright Information:
© 2010 The Author(s). European Journal of Neurology © 2010 EFNS.
Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Siena, Italy.
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MeSH Terms
Cytochrome P-450 CYP27A1 / deficiency*,  genetics*
Genetic Predisposition to Disease / genetics*
Mutation / genetics*
Xanthomatosis, Cerebrotendinous / diagnosis,  enzymology*,  genetics*
Young Adult
Reg. No./Substance:
EC 1.14.-/Cytochrome P-450 CYP27A1; EC protein, human

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