A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.

Ales MaverTamara ZigmanAshraf Yusuf RangrezMarijana CoricJan HomolakDalibor SaricIva SkificMario UdovicicMarija ZekusicUmber SaleemSandra D LauferArne HansenNorbert FreyIvo BaricBorut Peterlin

Published in: Cold Spring Harbor molecular case studies (2022)

We provide independent support for the role of biallelic loss-of-function MYZAP variants in dilated cardiomyopathy. This report extends the spectrum of cardiac disease associated with dysfunction of cardiac intercalated disc junction and sheds light on the mechanisms leading to DCM.

Keyphrases

intellectual disability
left ventricular
autism spectrum disorder
copy number
oxidative stress
early onset
heart failure
gene expression
genome wide