Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD 20814, USA.
Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah P. O. Box 27272, United Arab Emirates.
Genes (Basel). 2021 Jun 4;12(6):860. doi: 10.3390/genes12060860.
The -mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the syndrome include intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. Due to the X-linked nature of the syndrome, affected males exhibit more severe phenotypes compared with heterozygous females. A unique distinguishing feature of the syndrome across the sexes, however, is a peculiar combination of recurrent sinopulmonary infections and atopy exclusively seen in a subset of affected males. In addition to the 'typical' 0.5 Mb duplication detected in most cases reported to date with the syndrome, a shortened centromeric version, and another 0.2 Mb telomerically shifted one, have been recently identified, with most detected duplications being maternally inherited, except for three recent cases found to have de novo duplications. Interestingly, a recently reported case of an affected male suggests a possible association of the syndrome with multiple malignancies, an observation that has been recently replicated in two pediatric patients. As a result, a better understanding of the pathogenesis of -mediated Xq28 duplication syndrome may grant us a better understanding of the sex-specific differences in immunological responses, as well as the potential role of the genes involved by the duplication, in oncogenesis.
Xq28 重复综合征是一种罕见的 X 连锁智力障碍综合征（XLIDS），由 X 染色体 q28 亚区 1 和 2 同源区域 22 号内含子之间的片段重复引起。该综合征的主要临床特征包括智力障碍、神经行为异常和面部畸形。由于该综合征的 X 连锁性质，与杂合子女性相比，受影响的男性表现出更严重的表型。然而，该综合征在两性中具有独特的区别特征，即一组受影响的男性中反复发生的鼻-肺感染和特应性的独特组合。除了迄今为止报道的大多数病例中检测到的“典型”0.5 Mb 重复外，最近还鉴定出缩短的着丝粒版本和另一个 0.2 Mb 端粒移位的版本，大多数检测到的重复是母系遗传的，除了最近发现的三个新生重复病例。有趣的是，最近报道的一例受影响男性的病例提示该综合征可能与多种恶性肿瘤有关，这一观察结果最近在两名儿科患者中得到了复制。因此，更好地了解 Xq28 重复综合征的发病机制可能使我们更好地了解免疫反应中的性别特异性差异，以及重复涉及的基因在肿瘤发生中的潜在作用。
