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首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes
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Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes

机译：解开由kabuki和kabuki的综合征共享的分子途径

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摘要

Kabuki syndrome ( KS ) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS , accounting for 56%‐75% and 3%‐8% of cases, respectively. Patients without mutations in 1 of the 2 causative KS genes are often referred to as affected by Kabuki‐like syndrome. Overall, they represent approximately 30% of KS cases, pointing toward substantial genetic heterogeneity for this condition. Here, we review all currently available literature describing KS ‐like phenotypes (or phenocopies) associated with genetic variants located in loci different from KMT2D and KDM6A . We also report on a new KS phenocopy harboring a 5?Mb de novo deletion in chr10p11.22‐11.21. An enrichment analysis aimed at identifying functional Gene Ontology classes shared by the 2 known KS causative genes and by new candidate genes currently associated with KS ‐like phenotypes primarily converges upon abnormal chromatin remodeling and transcriptional dysregulation as pivotal to the pathophysiology of KS phenotypic hallmarks. The identification of mutations in genes belonging to the same functional pathways of KMT2D and KDM6A can help design molecular screenings targeted to KS ‐like phenotypes.
机译：kabuki综合征（ks）是一种稀有遗传综合征，其特征在于典型的面部甲般的面部甲蒜，可变程度的智力残疾，器官畸形，产后生长迟滞和骨骼异常。到目前为止，KMT2D或KDM6A突变已被确定为KS的主要原因，分别占56％-75％和3％-8％的病例。没有2个致病基因的1个没有突变的患者通常被称为受kabuki综合征的影响。总体而言，它们代表大约30％的KS病例，指向这种情况的大量遗传异质性。在这里，我们审查了所有目前可用的文献，描述了与位于与KMT2D和KDM6A不同的基因座中的遗传变异相关的KS-WIKE表型（或苯甲酸）。我们还报告了在CHR10P11.22-11.21中携带5？MB De Novo删除的新KS斑块。旨在鉴定由2个已知的Ks致病基因共享的功能基因本体类别以及目前与Ks-like表型相关的新候选基因的富集分析主要会聚在染色质异常重塑和转录中的失调和转录中的致病性与KS表型标志的病理生理学。属于KMT2D和KDM6A的相同功能途径的基因中突变的鉴定可以帮助设计靶向KS-Llike表型的分子筛。

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