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

Autor:	Solveig Schulz, Birgit Eichhorn, Stephanie Demuth, Ulrike Bernstein, Oliver Puk
Rok vydání:	2019
Předmět:	business.industry Short neck Rett syndrome medicine.disease Bioinformatics Frameshift mutation MECP2 Mutation (genetic algorithm) Intellectual disability Genetics medicine Precocious puberty Atypical Rett syndrome business Genetics (clinical)
Zdroj:	Molecular Syndromology. 10:223-228
ISSN:	1661-8777 1661-8769
DOI:	10.1159/000501183
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::ac6152cb004f926dd226fe360cafa120 https://doi.org/10.1159/000501183 Zobrazit plný text záznamu