De novo mosaic MECP2 mutation in a female with Rett syndrome.

ABSTRACT: We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 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.

SUBMITTER: Alexandrou A 

PROVIDER: S-EPMC6389470 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature