A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report

These functional findings confirm the pathogenicity of this <i>de novo</i> <i>MECP2</i> nonsense mutation and demonstrate that it leads to a loss of function, a mechanism consistent with nonsense-mediated mRNA decay (NMD). Our study elucidates the genotype-phenotype correlation in this case and provides experimental insight into the underlying molecular mechanism.