Mutation analysis of CYP27A1 gene in a patient with cerebrotendinous xanthomatosis / 中国神经精神疾病杂志

ABSTRACT

Objective To investigate the causative mutations of CYP27A1 gene in a sporadic cerebrotendinous xanthomatosis patient. Methods Genomic DNA was extracted from peripheral blood of the patient and her parents. All exons and splice sites of CYP27A1 gene were amplified by polymerase chain reaction (PCR) followed by Sanger sequenc-ing. 105 healthy unrelated subjects were also sequenced for the novel mutation in CYP27A1. Results A novel splice site mutation c.446+1G>T, a novel missense mutation c.877A>T(p.Met293Leu) and a known missense mutation c.1016C>T (p.Thr339Met) of CYP27A1 gene were identified in the patient. The mother carriers the two novel mutations and the fa-ther the c.1016C>T(p.Thr339Met) mutation. The two novel mutations were absent in 105 control subjects, respectively. Conclusions Our study detected two novel mutations, c.446+1G>T and c.877A>T, as well as a known mutation c.1016C>T, of CYP27A1 in a sporadic cerebrotendinous xanthomatosis patient. Our data provide novel information for the mutational spectrum of the gene, which is applicable in the genetic testing and diagnosis. The data also provide in-sight into the pathogenesis of the disease.