Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.
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.
Kenton
Alexander B
AB
Department of Pediatrics, Section of Neonatology, Baylor College of Medicine, Houston, TX, USA.
Sanchez
Ximena
X
Coveler
Karen J
KJ
Makar
Kimberly A
KA
Jimenez
Shinawe
S
Ichida
Fukiko
F
Murphy
Ross T
RT
Elliott
Perry M
PM
McKenna
William
W
Bowles
Neil E
NE
Towbin
Jeffrey A
JA
Bowles
Karla R
KR
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*
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