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Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.

作者信息

Lee Ming-Jen, Huang Yuan-Chung, Sweeney Mary G, Wood Nicholas W, Reilly Mary M, Yip Ping-Keung

出版信息

J Neurol. 2002 Sep;249(9):1311-2. doi: 10.1007/s00415-002-0762-9.

DOI:10.1007/s00415-002-0762-9
PMID:12242561
Abstract
摘要

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Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.伴有周围神经病变的脑腱黄瘤病：一项针对中国人群的临床及神经生理学研究
Ann Transl Med. 2020 Nov;8(21):1372. doi: 10.21037/atm-20-2746.
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Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.中国人脑腱黄瘤病患者的临床和遗传特征。
Orphanet J Rare Dis. 2019 Dec 3;14(1):282. doi: 10.1186/s13023-019-1252-9.
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Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.

本文引用的文献

1
Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.美国家系中脑腱性黄瘤病的精细定位、突变分析及结构定位
J Lipid Res. 2001 Feb;42(2):159-69.
2
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.脑腱性黄瘤病患者脑部的磁共振成像及波谱变化
Brain. 2001 Jan;124(Pt 1):121-31. doi: 10.1093/brain/124.1.121.
3
Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.脑腱黄瘤病。关于神经和肌肉的争议：对10例患者的观察
中国人家族性脑腱黄瘤病患者的临床及分子遗传学特征。
Metab Brain Dis. 2017 Oct;32(5):1609-1618. doi: 10.1007/s11011-017-0047-8. Epub 2017 Jun 17.
Neuromuscul Disord. 2000 Aug;10(6):407-14. doi: 10.1016/s0960-8966(00)00112-7.
4
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.脑腱黄瘤病患者的临床和分子遗传学特征
Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908.
5
Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.在一个患有脑腱黄瘤病的日本家族中，固醇27-羟化酶基因（CYP27）的突变导致白细胞中表达的mRNA截短。
J Neurol Neurosurg Psychiatry. 1999 Nov;67(5):675-7. doi: 10.1136/jnnp.67.5.675.
6
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.由固醇27 - 羟化酶基因的两个新突变导致的脑腱黄瘤病，这些突变破坏了mRNA剪接。
J Lipid Res. 1996 Jul;37(7):1459-67.
7
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.固醇27-羟化酶基因中的移码突变和剪接连接突变导致犹太裔或摩洛哥裔人群患脑腱黄瘤病。
J Clin Invest. 1993 Jun;91(6):2488-96. doi: 10.1172/JCI116484.
8
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.胆汁酸生物合成酶固醇27-羟化酶的突变是脑腱黄瘤病的基础。
J Biol Chem. 1991 Apr 25;266(12):7779-83.