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
收藏
页码：144 / 146
页数：3
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