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MECP2 duplication syndrome in a Chinese family

BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss- or gain-function of this gene may contribute to neurodevelopmental disorders. The aim of this study is to delineate the clini...

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Autores principales: Zhang, Qingping, Zhao, Ying, Yang, Yanling, Bao, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682232/
https://www.ncbi.nlm.nih.gov/pubmed/26672597
http://dx.doi.org/10.1186/s12881-015-0264-0
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author Zhang, Qingping
Zhao, Ying
Yang, Yanling
Bao, Xinhua
author_facet Zhang, Qingping
Zhao, Ying
Yang, Yanling
Bao, Xinhua
author_sort Zhang, Qingping
collection PubMed
description BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss- or gain-function of this gene may contribute to neurodevelopmental disorders. The aim of this study is to delineate the clinical characteristics of MECP2 duplication syndrome and the hereditary mechanism in a Chinese family. CASE PRESENTATION: We identified a Chinese family with three persons carry MECP2 gene duplication: a boy, his mother and his grandmother. The duplication segment which was detected by multiplex ligation-dependent probe amplification (MLPA) included gene MECP2, interleukin-1 receptor-associated kinase 1 (IRAK1), filamin A (FLNA), and L1 cell adhesion molecule (L1CAM). Furthermore, array comparative genomic hybridization (aCGH) was performed on the mother, showed that MECP2 containing duplication was 510 Kb (153,113,885-153,624,154), including 16 other genes except MECP2. The boy showed most symptoms of MECP2 duplication syndrome. His mother and maternal grandmother were asymptomatic. Both female carriers had a skewed X chromosome inactivation (XCI), which were 80:20 and 74:26 respectively. CONCLUSION: To our knowledge, this is the second reported Chinese Han family with MECP2-containing duplications. And this patient had recurrent respiratory infections which was different from the first two Chinese-brother cases. MECP2 is the core gene responsible for MECP2 duplication syndrome. XCI may play an important role in modulating the clinical manifestation.
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spelling pubmed-46822322015-12-18 MECP2 duplication syndrome in a Chinese family Zhang, Qingping Zhao, Ying Yang, Yanling Bao, Xinhua BMC Med Genet Case Report BACKGROUND: Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss- or gain-function of this gene may contribute to neurodevelopmental disorders. The aim of this study is to delineate the clinical characteristics of MECP2 duplication syndrome and the hereditary mechanism in a Chinese family. CASE PRESENTATION: We identified a Chinese family with three persons carry MECP2 gene duplication: a boy, his mother and his grandmother. The duplication segment which was detected by multiplex ligation-dependent probe amplification (MLPA) included gene MECP2, interleukin-1 receptor-associated kinase 1 (IRAK1), filamin A (FLNA), and L1 cell adhesion molecule (L1CAM). Furthermore, array comparative genomic hybridization (aCGH) was performed on the mother, showed that MECP2 containing duplication was 510 Kb (153,113,885-153,624,154), including 16 other genes except MECP2. The boy showed most symptoms of MECP2 duplication syndrome. His mother and maternal grandmother were asymptomatic. Both female carriers had a skewed X chromosome inactivation (XCI), which were 80:20 and 74:26 respectively. CONCLUSION: To our knowledge, this is the second reported Chinese Han family with MECP2-containing duplications. And this patient had recurrent respiratory infections which was different from the first two Chinese-brother cases. MECP2 is the core gene responsible for MECP2 duplication syndrome. XCI may play an important role in modulating the clinical manifestation. BioMed Central 2015-12-16 /pmc/articles/PMC4682232/ /pubmed/26672597 http://dx.doi.org/10.1186/s12881-015-0264-0 Text en © Zhang et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Zhang, Qingping
Zhao, Ying
Yang, Yanling
Bao, Xinhua
MECP2 duplication syndrome in a Chinese family
title MECP2 duplication syndrome in a Chinese family
title_full MECP2 duplication syndrome in a Chinese family
title_fullStr MECP2 duplication syndrome in a Chinese family
title_full_unstemmed MECP2 duplication syndrome in a Chinese family
title_short MECP2 duplication syndrome in a Chinese family
title_sort mecp2 duplication syndrome in a chinese family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682232/
https://www.ncbi.nlm.nih.gov/pubmed/26672597
http://dx.doi.org/10.1186/s12881-015-0264-0
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AT yangyanling mecp2duplicationsyndromeinachinesefamily
AT baoxinhua mecp2duplicationsyndromeinachinesefamily