Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome

Mol Syndromol. 2019 Jul;10(4):223-228. doi: 10.1159/000501183. Epub 2019 Jul 2.


We report 2 cases of girls with MECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.

Keywords: Atypical Rett syndrome; Frameshift; MECP2 deletion; Premature stop codon; Truncated protein.