Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.

ABSTRACT:

Introduction

Mowat-Wilson syndrome (MWS) is an autosomal-dominant complex developmental disorder characterized by distinctive facial appearance, intellectual disability, epilepsy, and various clinically heterogeneous abnormalities reminiscent of neurocristopathies. MWS is caused by haploinsufficiency of ZEB2 due to heterozygous point mutations and copy number variations.

Case presentation

We report on two unrelated affected individuals with novel ZEB2indel mutations, molecularly confirming the diagnosis of MWS. Quantitative real-time polymerase chain reaction (PCR) for the comparison of total transcript levels and allele-specific quantitative real-time PCR were also performed and demonstrated that the truncating mutations did not lead to nonsense-mediated decay

SUBMITTER: Guleray Lafcı N 

PROVIDER: S-EPMC10267494 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature