Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-IG>T in the sterol 27-hydroxylase gene

被引：8

作者：

Mak, CM ^{[1
]}

Lam, KSL

Tan, KCB

Ma, OC

Tam, S

机构：

[1] Queen Mary Hosp, Div Clin Biochem, Hong Kong, Hong Kong, Peoples R China

[2] Queen Mary Hosp, Univ Dept Med, Hong Kong, Hong Kong, Peoples R China

来源：

MOLECULAR GENETICS AND METABOLISM | 2004年 / 81卷 / 02期

关键词：

cerebrotendinous xanthomatosis; CYP27A1; Hong Kong Chinese; normocholesterolemic tendon xanthomas; novel splicing mutation; sterol; 27-hydroxylase;

D O I：

10.1016/j.ymgme.2003.11.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-IG>T) was identified. Family screening revealed the same mutation in his elder brother and the youngest sister. All the three affected siblings were compound heterozygous for IVS6-IG>T and a known missense mutation R372Q (GenBank Accession No. M62401). Significant phenotypic variation was noted among them that the youngest sister was still symptom-free at the time of writing. (C) 2003 Elsevier Inc. All rights reserved.

引用

页码：144 / 146

页数：3

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-IG&gt;T in the sterol 27-hydroxylase gene

Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-IG>T in the sterol 27-hydroxylase gene