Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase. Clinically, CTX is characterized by tendon xanthomas, premature atherosclerosis, juvenile cataracts and progressiv...
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| Main Authors: | , , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2018-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase. Clinically, CTX is characterized by tendon xanthomas, premature atherosclerosis, juvenile cataracts and progressive neurological deficits. In this study, we report one 34 year-old Taiwanese man who developed bilateral xanthomas on Achilles tendon and progressive neuropsychiatric disorder. DNA sequencing revealed novel compound heterozygous mutation of CYP27A1 gene, 1072C > T (Gln358X) in exon 6 and c.496-497, 503-514 deletion in exon 1. Early diagnosis of CTX is crucial because treatment with chenodeoxycholic acid in time may prevent or improve neurological dysfunction. Keywords: Cerebrotendinous xanthomatosis, Tendon xanthomas, CYP27A1 |
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| Item Description: | 1027-8117 10.1016/j.dsi.2018.01.003 |