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

Ulrike Bernstein; Stephanie Demuth; Oliver Puk; Birgit Eichhorn; Solveig Schulz

doi:10.1159/000501183

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.

Authors

Ulrike Bernstein¹, Stephanie Demuth², Oliver Puk³, Birgit Eichhorn², Solveig Schulz¹

Affiliations

¹ Center of Human Genetics, Jena University Hospital, Jena, Germany.
² MVZ Human Genetics, Erfurt, Germany.
³ CeGat GmbH, Tübingen, Germany.

Abstract

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.