Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation

被引：17
作者：
Hosomi, Naoko
Oiso, Naoki
Fukai, Kazuyoshi
Hanada, Kazushi
Fujita, Hiroko
Ishii, Masamitsu
机构：
[1] Osaka City Univ, Grad Sch Med, Dept Dermatol, Abeno Ku, Osaka 5458585, Japan
[2] Kashiwara Municipal Hosp, Div Dermatol, Kashiwara, Japan
[3] Saiseikai Tondabayashi Hosp, Dept Dermatol, Tondabayashi, Japan
[4] Kinki Univ, Sch Med, Dept Dermatol, Osaka 577, Japan
[5] Kinki Univ, Sch Med, Dept Neuropsychiat, Osaka 577, Japan
[6] Mitsubishi Kagaku Bioclin Labs Inc, Osaka, Japan
来源：
JOURNAL OF DERMATOLOGICAL SCIENCE | 2007年 / 45卷 / 01期
关键词：
mental retardation; VCXA; X-linked ichthyosis;
D O I：
10.1016/j.jdermsci.2006.10.001
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
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.
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页码：31 / 36
页数：6
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