Dataset Information
De novo mosaic MECP2 mutation in a female with Rett syndrome.
Ontology highlight
ABSTRACT:
SUBMITTER: Alexandrou A
PROVIDER: S-EPMC6389470 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
De novo mosaic <i>MECP2</i> mutation in a female with Rett syndrome.
Clinical case reports 20190115 2
We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on <i>MECP2</i> gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. Rett syndrome should be considered in both males and females. ...[more]