Four novel CYP27A1 mutations in seven Italian patients with CTX.
OBJECTIVE
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.
Gallus
G N
GN
Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Siena, Italy.
Dotti
M T
MT
Mignarri
A
A
Rufa
A
A
Da Pozzo
P
P
Cardaioli
E
E
Federico
A
A
D000293:Adolescent; D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D055815:Young Adult
C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase