巴西南部地区与先天性心脏病相关的GATA 4缺失

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-29 DOI:10.1055/s-0040-1714691
Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen
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引用次数: 5

摘要

心脏的正常发育包括一个高度调控的遗传事件机制,包括转录因子。先天性心脏病(CHD)与染色体异常和拷贝数变异(CNVs)有关。我们的目的是通过多重结扎依赖探针扩增(MLPA)技术来研究CNVs在冠心病患者心脏正常发育的内参基因中的存在。对某儿科医院心脏重症监护病房首次入住的207例冠心病患儿的GATA4、NKX2-5、TBX5、BMP4和CRELD1基因及22q11.2染色体区域进行分析。在7例(3.4%)患者中检测到CNVs: 4例有22q11.2缺失(22q11DS)(1.9%), 2例有GATA4缺失(1%),1例有22q11.2重复(0.5%)。未发现NKX2-5、TBX5、BMP4和CRELD1基因CNVs的患者。GATA4缺失似乎存在于相当数量的冠心病患者中,特别是那些有室间隔缺损、持续性左上腔静脉、肺动脉异常和心外病变的患者。GATA4筛查在针对这些冠心病患者时似乎更有效。研究冠心病患者GATA4和22q11染色体区域的CNVs对预测冠心病的诊断和计划生育具有重要意义。
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GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil.

The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. GATA4 , NKX2-5 , TBX5 , BMP4 , and CRELD1 genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a GATA4 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the NKX2-5 , TBX5 , BMP4 , and CRELD1 genes were identified. GATA4 deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. GATA4 screening seems to be more effective when directed to these CHDs. The investigation of CNVs in GATA4 and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.

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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
期刊最新文献
Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1. Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder. Understanding the Endocrine and Molecular Signaling Cascade Regulation Pathways in Children with Hypospadias. A Rare Case of Neuronal Ceroid Lipofuscinosis-Type 1 (NCL-1) with Vitamin D-Dependent Rickets-Type 1 (VDDR-1), Complex 1 Mitochondrial Deficiency, and Mixed Variant-Checkerboard and Phylloid Type of Pigmentary Mosaicism. Contributing Reviewers in 2023.
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