Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.
Gene. 2013 Sep 25;527(2):578-83. doi: 10.1016/j.gene.2013.06.018. Epub 2013 Jun 18.
X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2 Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes.
X 连锁鱼鳞病是一种影响皮肤的遗传疾病，由类固醇硫酸酯酶（STS）缺乏引起，常与 Xp22.31 处的重复微缺失有关。大多数 STS 缺失患者仅表现为 X 连锁鱼鳞病，据信包括智力障碍在内的更复杂疾病的患者可能是由于相邻基因缺失所致。事实上，VCX3A 基因是 VCX（可变电荷，X 染色体）基因家族的成员，先前被提议为 X 连锁鱼鳞病患者 X 连锁非特异性智力障碍的候选基因。我们报告了一例具有家族性鱼鳞病、畸形特征和中度智力障碍的男孩，其 Xp22.3 上约 2Mb 的染色体间缺失涉及 VCX3A 和 STS 基因。
