De novo mosaic MECP2 mutation in a female with Rett syndrome

We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation onMECP2 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. Key Clinical MessageWe describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation onMECP2 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.

Source: Clinical Case Reports - January 15, 2019 Category: General Medicine Authors: Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou ‐Anastasiadou, Carolina Sismani Tags: CASE REPORT Source Type: research