Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Qingping, Zhao, Ying, Yang, Yanling, Bao, Xinhua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
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

Ejemplares similares

Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
por: Akahoshi, Keiko, et al.
Publicado: (2023)

Familial cases and male cases with MECP2 mutations
por: Zhang, Qingping, et al.
Publicado: (2017)

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
por: Li, Xiaoyan, et al.
Publicado: (2017)

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
por: Wen, Yongxin, et al.
Publicado: (2023)

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database
por: Ta, Daniel, et al.
Publicado: (2022)

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage
por: Collins, Bridget E, et al.
Publicado: (2022)

MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution
por: Cani, Ilaria, et al.
Publicado: (2022)

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report
por: Kim, Tae-Yong, et al.
Publicado: (2023)

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections
por: Xu, Xiu, et al.
Publicado: (2012)

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome
por: Bauer, Michael, et al.
Publicado: (2015)

How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome
por: John Cherian, Dani, et al.
Publicado: (2023)

Cortisol profiles and clinical severity in MECP2 duplication syndrome
por: Peters, Sarika U., et al.
Publicado: (2020)

Altered visual cortical processing in a mouse model of MECP2 duplication syndrome
por: Zhang, Dinghong, et al.
Publicado: (2017)

MECP2 duplication phenotype in symptomatic females: report of three further cases
por: Novara, Francesca, et al.
Publicado: (2014)

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
por: Heckman, Laura Dean, et al.
Publicado: (2014)

MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome
por: Signorini, Cinzia, et al.
Publicado: (2016)

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
por: Ta, Daniel, et al.
Publicado: (2022)

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
por: Hanchard, Neil A, et al.
Publicado: (2012)

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation
por: Gottschalk, Ilona, et al.
Publicado: (2022)

Aberrant brain functional and structural developments in MECP2 duplication rats
por: Xu, Ming, et al.
Publicado: (2022)

Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome
por: Ash, Ryan T., et al.
Publicado: (2018)

When Rett syndrome is due to genes other than MECP2
por: Percy, Alan K., et al.
Publicado: (2018)

De novo mosaic MECP2 mutation in a female with Rett syndrome
por: Alexandrou, Angelos, et al.
Publicado: (2019)

Accumulated quiescent neural stem cells in adult hippocampus of the mouse model for the MECP2 duplication syndrome
por: Chen, Zhifang, et al.
Publicado: (2017)

Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
por: Xing, Xu-Hang, et al.
Publicado: (2023)

Altered neuronal network and rescue in a human MECP2 duplication model
por: Nageshappa, Savitha, et al.
Publicado: (2015)

Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism
por: Ash, Ryan Thomas, et al.
Publicado: (2021)

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligos
por: Sztainberg, Yehezkel, et al.
Publicado: (2015)

MeCP2 duplication causes hyperandrogenism by upregulating LHCGR and downregulating RORα
por: Wang, Yu-Meng, et al.
Publicado: (2021)

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
por: Wang, Yanan, et al.
Publicado: (2023)

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome
por: Takeguchi, Ryo, et al.
Publicado: (2019)

Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)
por: Ta, Daniel, et al.
Publicado: (2022)

MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum
por: San Antonio-Arce, Victoria, et al.
Publicado: (2016)

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome
por: Samaco, Rodney C, et al.
Publicado: (2012)

Multimodal Neuroimaging in Rett Syndrome With MECP2 Mutation
por: Kong, Yu, et al.
Publicado: (2022)

Caudal Duplication Syndrome
por: Sur, Amitava, et al.
Publicado: (2013)

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
por: Crippa, Milena, et al.
Publicado: (2015)

Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28
por: Pitzianti, Maria Bernarda, et al.
Publicado: (2019)

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
por: Candelo, Estephania, et al.
Publicado: (2019)

Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
por: Arvio, Maria, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_42l6gqd0oa0st6lagtp03q0378