Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction.

Sai Suma K SamudralaLauren M NorthKarl D StammMichael G EaringMichele A FrommeltRichard WillesSwarnendu TripathiNikita R DsouzaMichael T ZimmermannDonna K MahnkeHuan Ling LiangMichael LundChien-Wei LinGabrielle C GeddesMichael E MitchellAoy Tomita-Mitchell

Published in: Molecular genetics & genomic medicine (2020)

In this familial case of EA/LVNC, we have identified a candidate gene variant, KLHL26 (p.R237C), which may have an important role in ubiquitin-mediated protein degradation during cardiac development.

Keyphrases

left ventricular
early onset
heart failure
acute myocardial infarction
hypertrophic cardiomyopathy
aortic stenosis
copy number
mitral valve
cardiac resynchronization therapy
protein protein
left atrial
coronary artery disease
transcatheter aortic valve replacement
aortic valve