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

Authors

Bernstein U1, Demuth S2, Puk O3, Eichhorn B2, Schulz S1.
  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.