Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen
{"title":"巴西南部地区与先天性心脏病相关的GATA 4缺失","authors":"Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen","doi":"10.1055/s-0040-1714691","DOIUrl":null,"url":null,"abstract":"<p><p>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. <i>GATA4</i> , <i>NKX2-5</i> , <i>TBX5</i> , <i>BMP4</i> , and <i>CRELD1</i> 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 <i>GATA4</i> deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the <i>NKX2-5</i> , <i>TBX5</i> , <i>BMP4</i> , and <i>CRELD1</i> genes were identified. <i>GATA4</i> 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. <i>GATA4</i> screening seems to be more effective when directed to these CHDs. The investigation of CNVs in <i>GATA4</i> and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4000,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1714691","citationCount":"5","resultStr":"{\"title\":\"<i>GATA</i> 4 Deletions Associated with Congenital Heart Diseases in South Brazil.\",\"authors\":\"Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen\",\"doi\":\"10.1055/s-0040-1714691\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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. <i>GATA4</i> , <i>NKX2-5</i> , <i>TBX5</i> , <i>BMP4</i> , and <i>CRELD1</i> 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 <i>GATA4</i> deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the <i>NKX2-5</i> , <i>TBX5</i> , <i>BMP4</i> , and <i>CRELD1</i> genes were identified. <i>GATA4</i> 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. <i>GATA4</i> screening seems to be more effective when directed to these CHDs. The investigation of CNVs in <i>GATA4</i> and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.</p>\",\"PeriodicalId\":16695,\"journal\":{\"name\":\"Journal of pediatric genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.4000,\"publicationDate\":\"2021-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1055/s-0040-1714691\",\"citationCount\":\"5\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0040-1714691\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2020/7/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0040-1714691","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/7/29 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
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.
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.