Large Genomic Imbalances in Brugada Syndrome
Publication Date
September 29, 2016
Journal
PLOS ONE
Authors
Irene Mademont Soler, Mel·Lina Pinsach Abuin, Helena Riuró, Jesus Mates, et al
Volume
11
Issue
9
Pages
e0163514
DOI
https://dx.plos.org/10.1371/journal.pone.0163514
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0163514
Scopus
84991670413
Mendeley
http://www.mendeley.com/research/large-genomic-imbalances-brugada-syndrome
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Mendeley | Further Information

{"title"=>"Large genomic imbalances in Brugada syndrome", "type"=>"journal", "authors"=>[{"first_name"=>"Irene", "last_name"=>"Mademont-Soler", "scopus_author_id"=>"26634025200"}, {"first_name"=>"Mellina", "last_name"=>"Pinsach-Abuin", "scopus_author_id"=>"56815129200"}, {"first_name"=>"Helena", "last_name"=>"Riuró", "scopus_author_id"=>"36239233000"}, {"first_name"=>"Jesus", "last_name"=>"Mates", "scopus_author_id"=>"56263115600"}, {"first_name"=>"Alexandra", "last_name"=>"Pérez-Serra", "scopus_author_id"=>"36130484800"}, {"first_name"=>"Mònica", "last_name"=>"Coll", "scopus_author_id"=>"7102780753"}, {"first_name"=>"José Manuel", "last_name"=>"Porres", "scopus_author_id"=>"56279110900"}, {"first_name"=>"Bernat", "last_name"=>"Del Olmo", "scopus_author_id"=>"56910099200"}, {"first_name"=>"Anna", "last_name"=>"Iglesias", "scopus_author_id"=>"57196523112"}, {"first_name"=>"Elisabet", "last_name"=>"Selga", "scopus_author_id"=>"23095988000"}, {"first_name"=>"Ferran", "last_name"=>"Picó", "scopus_author_id"=>"55548511800"}, {"first_name"=>"Sara", "last_name"=>"Pagans", "scopus_author_id"=>"6506618275"}, {"first_name"=>"Carles", "last_name"=>"Ferrer-Costa", "scopus_author_id"=>"8866407700"}, {"first_name"=>"Geòrgia", "last_name"=>"Sarquella-Brugada", "scopus_author_id"=>"26432928900"}, {"first_name"=>"Elena", "last_name"=>"Arbelo", "scopus_author_id"=>"16066822500"}, {"first_name"=>"Sergi", "last_name"=>"Cesar", "scopus_author_id"=>"56414745100"}, {"first_name"=>"Josep", "last_name"=>"Brugada", "scopus_author_id"=>"56524780400"}, {"first_name"=>"Óscar", "last_name"=>"Campuzano", "scopus_author_id"=>"26643853000"}, {"first_name"=>"Ramon", "last_name"=>"Brugada", "scopus_author_id"=>"7004426039"}], "year"=>2016, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "sgr"=>"84991670413", "doi"=>"10.1371/journal.pone.0163514", "pmid"=>"27684715", "scopus"=>"2-s2.0-84991670413", "pui"=>"612795495"}, "id"=>"82a79342-a229-3cfe-a660-563af2d5dff3", "abstract"=>"PURPOSE Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about the frequency of copy number variants (CNVs) in SCN5A in BrS patients, and the role of CNVs in BrS-minor genes is a completely unexplored field. METHODS 220 BrS patients with negative genetic results were studied to detect CNVs in SCN5A. 63 cases were also screened for CNVs in BrS-minor genes. Studies were performed by Multiplex ligation-dependent probe amplification or Next-Generation Sequencing (NGS). RESULTS The detection rate for CNVs in SCN5A was 0.45% (1/220). The detected imbalance consisted of a duplication from exon 15 to exon 28, and could potentially explain the BrS phenotype. No CNVs were found in BrS-minor genes. CONCLUSION CNVs in current BrS-related genes are uncommon among BrS patients. However, as these rearrangements may underlie a portion of cases and they undergo unnoticed by traditional sequencing, an appealing alternative to conventional studies in these patients could be targeted NGS, including in a single experiment the study of SNVs, indels and CNVs in all the known BrS-related genes.", "link"=>"http://www.mendeley.com/research/large-genomic-imbalances-brugada-syndrome", "reader_count"=>18, "reader_count_by_academic_status"=>{"Librarian"=>3, "Researcher"=>4, "Student > Ph. D. Student"=>6, "Other"=>1, "Student > Bachelor"=>2, "Lecturer > Senior Lecturer"=>1, "Professor"=>1}, "reader_count_by_user_role"=>{"Librarian"=>3, "Researcher"=>4, "Student > Ph. D. Student"=>6, "Other"=>1, "Student > Bachelor"=>2, "Lecturer > Senior Lecturer"=>1, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>4, "Medicine and Dentistry"=>6, "Agricultural and Biological Sciences"=>3, "Arts and Humanities"=>1, "Computer Science"=>2}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>6}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>3}, "Computer Science"=>{"Computer Science"=>2}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}, "Unspecified"=>{"Unspecified"=>2}, "Arts and Humanities"=>{"Arts and Humanities"=>1}}, "reader_count_by_country"=>{"Spain"=>1}, "group_count"=>1}

Scopus | Further Information

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