5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases
5q31.3 Microdeletion Syndrome: Clinical and Molecular Characterization of Two Further Cases
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DOI：
10.1002/ajmg.a.36108
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发表时间：
2013-10-01
影响因子：
2
通讯作者：
Stark, Zornitza
中科院分区：
文献类型：
--
作者：
Brown, Natasha;Burgess, Trent;Stark, Zornitza
5q31.3微缺失综合征最近作为一种独特的临床实体出现，我们报告了两名新患者该区域从头缺失，使总数达到7例。与先前报道的病例相似，我们患者的表型特征是明显的张力低下、呼吸暂停、发育迟缓和进食困难。两例患者均有异常运动，但与脑电图（EEG）上的癫痫样活动无关。脑发育变化的神经影像学包括异常主要影响白质和额叶。5q31.3缺失区域与先前报道的病例重叠，并允许进一步细化最短重叠区域至101kb，仅包括三个基因。其中，富嘌呤元素结合蛋白A （PURA）基因在大脑发育中起着确定的作用，我们认为该基因的单倍不足是观察到的神经发育特征的主要原因。(c) 2013 Wiley Periodicals, Inc.；
The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo deletions of this region, bringing the total to seven. Similarly to previously reported cases, the phenotype of our patients is characterized by marked hypotonia, apnea, developmental delay, and feeding difficulties. Both patients had abnormal movements which did not correlate with epileptiform activity on electroencephalogram (EEG). Developmental brain changes on neuroimaging consisted of abnormalities predominantly affecting the white matter and frontal lobes. The 5q31.3 deleted regions overlap those of previously reported cases, and allow further refinement of the shortest region of overlap to 101kb, including only three genes. Of these, the purine-rich element binding protein A (PURA) gene has an established role in brain development, and we propose that haploinsufficiency for this gene is primarily responsible for the neurodevelopmental features observed. (c) 2013 Wiley Periodicals, Inc.