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

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

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

Author(s) -

Ulrike Bernstein,

Stephanie Demuth,

Oliver Puk,

Birgit Eichhorn,

Solveig Schulz

Publication year - 2019

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000501183

Subject(s) - rett syndrome , mecp2 , intellectual disability , pediatrics , medicine , mutation , genetics , gene , biology , psychiatry , phenotype

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.

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