De novo mosaic MECP2 mutation in a female with Rett syndrome

Angelos Alexandrou; Ioannis Papaevripidou; Ioanna Maria Alexandrou; Athina Theodosiou; Paola Evangelidou; Ludmila Kousoulidou; George Tanteles; Violetta Christophidou-Anastasiadou; Carolina Sismani

doi:10.1002/ccr3.1985

De novo mosaic MECP2 mutation in a female with Rett syndrome

Angelos Alexandrou
, Ioannis Papaevripidou
, Ioanna Maria Alexandrou
, Athina Theodosiou
, Paola Evangelidou
, Ludmila Kousoulidou
, George Tanteles
, Violetta Christophidou-Anastasiadou
, Carolina Sismani

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	366-370
Number of pages	5
Journal	Clinical Case Reports
Volume	7
Issue number	2
DOIs	https://doi.org/10.1002/ccr3.1985
Publication status	Published - Feb 2019
Externally published	Yes

Keywords

MECP2 mutation
next-generation sequencing
Rett syndrome
somatic mosaicism

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10.1002/ccr3.1985

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title = "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.",

keywords = "MECP2 mutation, next-generation sequencing, Rett syndrome, somatic mosaicism",

author = "Angelos Alexandrou and Ioannis Papaevripidou and Alexandrou, \{Ioanna Maria\} and Athina Theodosiou and Paola Evangelidou and Ludmila Kousoulidou and George Tanteles and Violetta Christophidou-Anastasiadou and Carolina Sismani",

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AU - Alexandrou, Angelos

AU - Papaevripidou, Ioannis

AU - Alexandrou, Ioanna Maria

AU - Theodosiou, Athina

AU - Evangelidou, Paola

AU - Kousoulidou, Ludmila

AU - Tanteles, George

AU - Christophidou-Anastasiadou, Violetta

AU - Sismani, Carolina

PY - 2019/2

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N2 - 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.

AB - 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.

KW - MECP2 mutation

KW - next-generation sequencing

KW - Rett syndrome

KW - somatic mosaicism

UR - https://www.scopus.com/pages/publications/85062046975

U2 - 10.1002/ccr3.1985

DO - 10.1002/ccr3.1985

M3 - Article

AN - SCOPUS:85062046975

SN - 2050-0904

VL - 7

SP - 366

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JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 2

ER -

De novo mosaic MECP2 mutation in a female with Rett syndrome

Abstract

Keywords

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