Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.


Dipartimento di Scienze e Tecnologie Ambientali, Biologiche e Farmaceutiche, Università della Campania "Luigi Vanvitelli", Caserta, Italy. [Email]


Beckwith-Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 intron 10. To unravel the etiological mechanisms underlying these epimutations, we searched for genetic variants associated with IC2 LOM.


Beckwith–Wiedemann syndrome,DNA methylation,genomic imprinting,imprinting disorders,long QT syndrome,