Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Jeng Yuan, Pi Shan Sung, Julia Yu Yun Lee, Sheau Chiou Chao

研究成果: Article同行評審

摘要

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.

原文English
頁(從 - 到)200-202
頁數3
期刊Dermatologica Sinica
36
發行號4
DOIs
出版狀態Published - 2018 十二月

All Science Journal Classification (ASJC) codes

  • Dermatology

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