Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene

被引：14

作者：

Suh, Sunghwan ^{[1
]}

Kim, Hee Kyung ^{[1
]}

Park, Hyung-Doo ^{[2
]}

Ki, Chang-Seok ^{[2
]}

Kim, Mi Yeon ^{[1
]}

Jin, Sang-Man ^{[1
]}

Kim, Se Won ^{[1
]}

Hur, Kyu Yeon ^{[1
]}

Kim, Kwang-Won ^{[1
]}

Kim, Jae Hyeon ^{[1
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Div Endocrinol & Metab,Dept Med, Seoul 135710, South Korea

[2] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2012年 / 55卷 / 01期

关键词：

Cerebrotendinous Xanthomatosis; CYP27A1; CHENODEOXYCHOLIC ACID;

D O I：

10.1016/j.ejmg.2011.08.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report three CTX siblings that shared a novel mutation of the CYP27A1 gene. These siblings presented with elevated cholestanol levels and typical manifestations such as tendon xanthomas, cataracts, osteopenia, mental retardation, cerebellar ataxia and peripheral neuropathy. All shared the same genetic mutation, c.1146_1151delins and c.1214G>A of CYP27A1. All were treated with 750 mg/day chenodeoxycholic acid (CDCA). In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, mental retardation, cerebellar ataxia and peripheral neuropathy. (C) 2011 Elsevier Masson SAS. All rights reserved.

引用

页码：71 / 74

页数：4

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