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Clin Case Rep. 2019 Jan 15;7(2):366-370. doi: 10.1002/ccr3.1985. eCollection 2019 Feb.

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

Author information

1
Department of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
2
Department of Clinical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
3
Archbishop Makarios III Medical Centre Nicosia Cyprus.
4
The Cyprus School of Molecular Medicine Nicosia Cyprus.

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.

KEYWORDS:

MECP2 mutation; Rett syndrome; next‐generation sequencing; somatic mosaicism

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