De novo mosaic mutation in a female with Rett syndrome.
Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.
Jun 22, 2019
Author information: Department of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus. Abstract We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on gene, with random X-chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X-chromosome inactivation, epigenetics and environment. […]