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 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 sh...

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Autores principales: Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389470/
https://www.ncbi.nlm.nih.gov/pubmed/30847208
http://dx.doi.org/10.1002/ccr3.1985
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author Alexandrou, Angelos
Papaevripidou, Ioannis
Alexandrou, Ioanna Maria
Theodosiou, Athina
Evangelidou, Paola
Kousoulidou, Ludmila
Tanteles, George
Christophidou‐Anastasiadou, Violetta
Sismani, Carolina
author_facet Alexandrou, Angelos
Papaevripidou, Ioannis
Alexandrou, Ioanna Maria
Theodosiou, Athina
Evangelidou, Paola
Kousoulidou, Ludmila
Tanteles, George
Christophidou‐Anastasiadou, Violetta
Sismani, Carolina
author_sort Alexandrou, Angelos
collection PubMed
description 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.
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spelling pubmed-63894702019-03-07 De novo mosaic MECP2 mutation in a female with Rett syndrome Alexandrou, Angelos Papaevripidou, Ioannis Alexandrou, Ioanna Maria Theodosiou, Athina Evangelidou, Paola Kousoulidou, Ludmila Tanteles, George Christophidou‐Anastasiadou, Violetta Sismani, Carolina Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-01-15 /pmc/articles/PMC6389470/ /pubmed/30847208 http://dx.doi.org/10.1002/ccr3.1985 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Alexandrou, Angelos
Papaevripidou, Ioannis
Alexandrou, Ioanna Maria
Theodosiou, Athina
Evangelidou, Paola
Kousoulidou, Ludmila
Tanteles, George
Christophidou‐Anastasiadou, Violetta
Sismani, Carolina
De novo mosaic MECP2 mutation in a female with Rett syndrome
title De novo mosaic MECP2 mutation in a female with Rett syndrome
title_full De novo mosaic MECP2 mutation in a female with Rett syndrome
title_fullStr De novo mosaic MECP2 mutation in a female with Rett syndrome
title_full_unstemmed De novo mosaic MECP2 mutation in a female with Rett syndrome
title_short De novo mosaic MECP2 mutation in a female with Rett syndrome
title_sort de novo mosaic mecp2 mutation in a female with rett syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389470/
https://www.ncbi.nlm.nih.gov/pubmed/30847208
http://dx.doi.org/10.1002/ccr3.1985
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