Mutated Transcripts of < b > < i > ZEB2 < /i > < /b > Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Conclusion:ZEB2 encodes a multifunctional pleiotropic protein. Novel mutations inZEB2 should be reported in order that genotype-phenotype correlations might be established in this clinically heterogeneous syndrome. Further cDNA and protein studies may help elucidate the underlying pathogenetic mechanisms of MWS since nonsense-mediated RNA decay was found to be absent in only a few studies including this study.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research