title: Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.
abstract: Isolated left ventricular noncompaction (LVNC) is a form of cardiomyopathy that most commonly presents in infancy with a hypertrophic and dilated left ventricle characterized by deep trabeculations and intertrabecular recesses. Our goal was to determine the frequency of mutations in G4.5, alpha-dystrobrevin, and FK Binding protein-12 in isolated LVNC patients. No mutations were identified in 47 of the 48 patients studied, while a splice site acceptor site mutation of intron 10 of G4.5 was identified in one patient, resulting in the deletion of exon 10 from the mRNA.
authors.affiliation: Department of Pediatrics, Section of Neonatology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Alexander B
authors.initials: AB
authors.lastname: Kenton
authors.forename: Ximena
authors.initials: X
authors.lastname: Sanchez
authors.forename: Karen J
authors.initials: KJ
authors.lastname: Coveler
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Makar
authors.forename: Shinawe
authors.initials: S
authors.lastname: Jimenez
authors.forename: Fukiko
authors.initials: F
authors.lastname: Ichida
authors.forename: Ross T
authors.initials: RT
authors.lastname: Murphy
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
authors.forename: William
authors.initials: W
authors.lastname: McKenna
authors.forename: Neil E
authors.initials: NE
authors.lastname: Bowles
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Towbin
authors.forename: Karla R
authors.initials: KR
authors.lastname: Bowles
mesh_terms: D000217:Acyltransferases; D001483:Base Sequence; D049029:Dystrophin-Associated Proteins / Q000235:genetics*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D022061:Tacrolimus Binding Protein 1A / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D049029:Dystrophin-Associated Proteins; D011506:Proteins; D022821:RNA Splice Sites; D012333:RNA, Messenger; D014157:Transcription Factors; C098885:dystrobrevin; D000217:Acyltransferases; C108675:TAFAZZIN protein, human; D022061:Tacrolimus Binding Protein 1A