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首页> 外文期刊>Human mutation >Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
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Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

机译：EHMT1基因的新型转录本的表征揭示了Kleefstra综合征的重要诊断意义。

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摘要

The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This can be caused by either submicroscopic 9q34 deletions or loss of function mutations of the EHMT1 gene. Remarkably, in three patients with a clinical suspicion of KS, molecular cytogenetic analysis revealed an interstitial 9q34 microdeletion proximal to the coding region of the EHMT1 gene based on the NM_ 024757.3 transcript. Because we found a mono-allelic EHMT1 transcript suggestive for haploinsufficiency of EHMT1 in two of these patients tested, we hypothesized that a deletion of regulatory elements or so far unknown coding sequences in the 5' region of the EHMT1 gene, might result in a phenotype compatible with KS. We further characterized the molecular content of deletions proximal to the transcript NM_ 024757.3 and confirmed presence of a novel predicted open reading frame comprising 27 coding exons (NM_ 024757.4). Further analysis showed that all three deletions included the presumed novel first exon of the EHMT1 gene. Subsequent testing of 75 individuals without previously detectable EHMT1 aberrations showed one additional case with a deletion comprising only this 5' part of the gene. These results have important implications for the genetic screening of KS and for studies of the functional significance of EHMT1.
机译：Kleefstra综合征（KS）的核心表型的特征是智力残疾，儿童肌张力低下和特征性的面部外观。这可能是由EHMT1基因的亚显微9q34缺失或功能突变的丧失引起的。值得注意的是，在三例临床怀疑为KS的患者中，分子细胞遗传学分析显示，基于NM-024757.3转录本，在邻近EHMT1基因编码区的间质9q34微缺失。因为我们在其中两名接受测试的患者中发现了单等位基因EHMT1转录本，提示EHMT1的单倍功能不足，所以我们推测EHMT1基因5'区域中调控元件的缺失或迄今为止未知的编码序列可能会导致表型与KS兼容。我们进一步表征了靠近转录本NM_024757.3的缺失的分子含量，并证实了包含27个编码外显子（NM_024757.4）的新型预测的开放阅读框的存在。进一步的分析表明，所有三个缺失都包括EHMT1基因的推测的新的第一外显子。随后对75个没有先前检测到的EHMT1畸变的个体进行了测试，结果显示了另一例带有仅包含基因5'部分缺失的病例。这些结果对KS的遗传筛选和对EHMT1的功能意义的研究具有重要的意义。

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