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首页> 外文期刊>Balkan journal of medical genetics: BJMG >De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly
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De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly

机译：de novo kemt2d杂合的框架缺失在一个新生儿，先天性心脏异常

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Kabuki syndrome (KS) is characterized by typical facial features and patients are also affected by multiple congenital anomalies, of which congenital heart anomalies (CHAs) are present in 28.0 to 80.0%. In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D gene. Although KS is a well-characterized syndrome, reaching the diagnosis in neonates is still challenging. Namely, newborns usually display mild facial features; therefore the diagnosis is mainly based on congenital malformations. In our case, a newborn was referred for next generation sequencing (NGS) testing due to the prenatally observed CHA. After birth, a ventricular septal defect (VSD), vesicoureteral reflux, muscular hypotonia, cleft palate, mild microcephaly, and some dysmorphic features, were noted. The NGS analysis was performed on the probanda??s genomic DNA using the TruSight One Sequencing Panel, which enriches exons of 4813 genes with clinical relevance to the disease. After variant calling, NGS data analysis was predominantly focused on rare variants in genes involved in VSD, microcephaly, and muscular hypotonia; features observed predominantly in our proband. With the aforementioned protocol, we were able to determine the previously unreported de novo frameshift deletion in the KMT2D gene resulting in translation termination. Although our proband is a typical representative of KS, his diagnosis was reached only after NGS analysis. Our proband thus represents the importance of genotypephenotype driven NGS analysis in diagnosis of patients with congenital anomalies.
机译：Kabuki综合征（KS）的特征在于典型的面部特征，患者也受到多重先天性异常的影响，其中先天性心脏异常（CHAs）以28.0至80.0％存在。在大约75.0％的患者中，KS的遗传原因是KS突变在KMT2D基因中引起的。虽然Ks是一种表征综合征，但达到新生儿的诊断仍然具有挑战性。即，新生儿通常会显示温和的面部特征;因此，诊断主要基于先天性畸形。在我们的情况下，由于经过预先观察到的CHA，在下一代测序（NGS）测试中提到了一个新生儿。出生后，注意到室间隔缺损（VSD），血清学内回流，肌肉低呼吸道，腭裂，轻微的微微症和一些疑似特征。使用Trusight一种测序面板对胰腺炎的基因组DNA进行NGS分析，其富集4813个基因的外显子与疾病的临床相关性。在变体呼叫之后，NGS数据分析主要集中在VSD，MicroCephaly和肌肉低氧基因中的基因中的罕见变体上;主要在我们的证据中主要观察到。通过上述协议，我们能够在KMT2D基因中确定先前未报告的DE Novo FRAMESHIFT删除，导致翻译终止。虽然我们的概念是Ks的典型代表，但他的诊断只有在NGS分析后才能达到。因此，我们的证书是基因型对先天性异常患者诊断患者的基因型型驱动NGS分析的重要性。

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