Núñez-Torres, RocíoFernández, Raquel M.López-Alonso, ManuelAntiñolo, GuillermoBorrego, Salud2014-07-242014-07-242009-11-19Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique. BMC Med. Genet. 2009; 10:119http://hdl.handle.net/10668/1689Journal Article; Research Support, Non-U.S. Gov't;BACKGROUND Hirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development. HSCR has a complex genetic etiology and mutations in several genes, mainly the RET proto-oncogene, have been related to the disease. There is a clear predominance of missense/nonsense mutations in these genes whereas copy number variations (CNVs) have been seldom described, probably due to the limitations of conventional techniques usually employed for mutational analysis. METHODS In this study we have aimed to analyze the presence of CNVs in some HSCR genes (RET, EDN3, GDNF and ZFHX1B) using the Multiple Ligation-dependent Probe Amplification (MLPA) approach. RESULTS Two alterations in the MLPA profiles of RET and EDN3 were detected, but a detailed inspection showed that the decrease in the corresponding dosages were due to point mutations affecting the hybridization probes regions. CONCLUSION Our results indicate that CNVs of the gene coding regions analyzed here are not a common molecular cause of Hirschsprung disease. However, further studies are required to determine the presence of CNVs affecting non-coding regulatory regions, as well as other candidate genes.enEndotelina-3Enfermedad de HirschsprungTécnicas de Amplificación de Ácido NucleicoProteínas Proto-Oncogénicas c-retSecuencias Reguladoras del Ácido NucleicoEspañaVariaciones en el Número de Copia de ADNMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Endothelins::Endothelin-3Medical Subject Headings::Check Tags::FemaleMedical Subject Headings::Diseases::Digestive System Diseases::Digestive System Abnormalities::Hirschsprung DiseaseMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Check Tags::MaleMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::MutationMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification TechniquesMedical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Tyrosine Kinases::Receptor Protein-Tyrosine Kinases::Proto-Oncogene Proteins c-retMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Base Sequence::Regulatory Sequences, Nucleic AcidMedical Subject Headings::Geographicals::Geographic Locations::Europe::SpainMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Genomic Structural Variation::DNA Copy Number Variationsresearch article19925665open access10.1186/1471-2350-10-1191471-2350PMC2784767