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| Smalley,Susan V.; Preiss,Yudith; Suazo,José; Vega,Javier Andrés; Angellotti,Isidora; Lagos,Carlos F.; Rivera,Enzo; Kleinsteuber,Karin; Campion,Javier; Martínez,J. Alfredo; Maiz,Alberto; Santos,José Luis. |
| Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile cataracts, diarrhea, tendon xanthomas, cognitive impairment and other neurological manifestations. Early diagnosis is critical, because treatment with chenodeoxycholic acid may prevent neurological damage. We studied the CYP27A1 gene in two Chilean CTX patients by sequencing its nine exons, exon-intron boundaries, and cDNA from peripheral blood mononuclear cells. Patient 1 is a compound heterozygote for the novel substitution c.256-1G > T that causes exon 2... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cerebrotendinous Xanthomatosis; Splicing; Mutation; Exon skipping. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100030 |
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