Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Autor:	Erwin Brosens, H. Berna Beverloo, Hitisha P. Zaveri, Michael Ludwig, Martin Lacher, Benno M. Ure, Daryl A. Scott, Robert van der Helm, Alice Hölscher, Elisabeth M. de Jong, Diane Van Opstal, Annelies de Klein, Florian Marsch, Dick Tibboel, Alina C. Hilger, Thomas M. Boemers, Rene M. H. Wijnen, Alice S. Brooks, Stefan Herms, Vera Choinitzki, Hanneke IJsselstijn, Per Hoffmann, Hannie Douben, Johannes Schumacher, Yolande van Bever, Bert H.J. Eussen, Heiko Reutter
Rok vydání:	2016
Předmět:	Adult 0301 basic medicine Oncology congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty DNA Copy Number Variations endocrine system diseases Genome-wide association study Tracheoesophageal fistula Biology Bioinformatics Article 03 medical and health sciences Genetic linkage Internal medicine Molecular genetics mental disorders Genetics medicine Humans Copy-number variation Child Esophageal Atresia Genetics (clinical) medicine.disease Human genetics 3. Good health 030104 developmental biology Genetic Loci Atresia Medical genetics Genome-Wide Association Study Tracheoesophageal Fistula
Zdroj:	European Journal of Human Genetics. 24:1715-1723
ISSN:	1476-5438 1018-4813
Popis:	Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts. We identified 167 rare CNVs containing genes (frequency
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714a21c22375d8724e4f5fd59dfe23d7 https://doi.org/10.1038/ejhg.2016.86 Zobrazit plný text záznamu Full text from SpringerLink