Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation
Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation
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DOI：
10.1016/j.jdermsci.2006.10.001
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发表时间：
2007-01-01
影响因子：
4.6
通讯作者：
Ishii, Masamitsu
中科院分区：
文献类型：
--
作者：
Hosomi, Naoko;Oiso, Naoki;Ishii, Masamitsu
背景：X连锁鱼鳞病（XLI）是由于类固醇硫酸酯酶（STS）活性缺乏引起的。约90%的XLI患者有大的缺失，涉及整个STS基因和侧翼区。最近，位于STS基因端粒末端约0.7Mb处的VCXA被报道为XLI患者中精神发育迟滞（MR）的候选基因。目的：描述一例边缘性精神发育迟滞的XLI患者的X染色体缺失。方法：我们进行了荧光原位杂交（FISH）分析以显示整个STS基因缺失，并进行了PCR分析以进行精细的缺失定位。结果：缺失的片段大小约为1.6 Mb，包括整个STS和VCXB 1基因。VCXA本身是完整的，但其启动子deleted.Conclusion：缺失，包括VCXA启动子与边缘性精神发育迟滞患者XLI。(c)2006年日本皮肤病研究学会。由Elsevier爱尔兰有限公司出版。保留所有权利。
Background: X-linked ichthyosis (XLI) is caused by deficiency of steroid sulfatase (STS) activity. About 90% XLI patients have Large deletions involving the entire STS gene and flanking regions. Recently, VCXA, which is located approximately 0.7 Mb telomeric to the STS gene, was reported as a candidate gene for mental retardation (MR) in patients with XLI.Objective: To delineate the X-chromosomal deletion of a XLI patient with borderline mental retardation.Methods: We carried out FISH analysis to show that the whole STS gene is deleted, and PCR analysis for fine-scale deletion mapping.Results: The deleted segment is approximately 1.6 Mb in size, and includes the entire STS and VCXB1 genes. VCXA itself is intact, but its promoter is deleted.Conclusion: A deletion that includes the VCXA promoter is associated with borderline mental retardation in a patient with XLI. (c) 2006 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. ALL rights reserved.