Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12

Mol Genet Metab. 2004 Jun;82(2):162-6. doi: 10.1016/j.ymgme.2004.02.009.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyltransferases
  • Base Sequence
  • Dystrophin-Associated Proteins / genetics*
  • Humans
  • Hypertrophy, Left Ventricular / genetics*
  • Mutation / genetics*
  • Proteins / genetics*
  • RNA Splice Sites / genetics
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Tacrolimus Binding Protein 1A / genetics*
  • Transcription Factors / genetics*

Substances

  • Dystrophin-Associated Proteins
  • Proteins
  • RNA Splice Sites
  • RNA, Messenger
  • Transcription Factors
  • dystrobrevin
  • Acyltransferases
  • TAFAZZIN protein, human
  • Tacrolimus Binding Protein 1A