Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

ABSTRACT:

Background

Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated.

Methods

Given the tight relationship with BWS, we hypothesized that the isolated form of the omphalocele could belong to the heterogeneous spectrum of the BWS associated features, representing an endophenotype with a clear gene

SUBMITTER: Bedeschi MF 

PROVIDER: S-EPMC5648441 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature