Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants in the gene. While the majority of RTT-causing variants are clustered in the methyl-CpG binding domain and NCoR/SMRT interaction domain, we report a female patient with a functionally uncharacterized variant in the C-terminal domain, c.1030C>T (R344W).