Cargando…

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

PURPOSE: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. METHODS: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 patients by a Bayesian genotyper....

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Qingping, Yang, Xiaoxu, Wang, Jiaping, Li, Jiarui, Wu, Qixi, Wen, Yongxin, Zhao, Ying, Zhang, Xiaoying, Yao, He, Wu, Xiru, Yu, Shujie, Wei, Liping, Bao, Xinhua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752670/ https://www.ncbi.nlm.nih.gov/pubmed/30405208 http://dx.doi.org/10.1038/s41436-018-0348-2

Ejemplares similares

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
por: Zhang, Qingping, et al.
Publicado: (2019)

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)

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation
por: Zhang, Qingping, et al.
Publicado: (2017)

Rett and Rett‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene
por: Wang, Jiaping, et al.
Publicado: (2019)

Novel MEF2C point mutations in Chinese patients with Rett (−like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation
por: Wang, Jiaping, et al.
Publicado: (2018)

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
por: Wang, Jiaping, et al.
Publicado: (2017)

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
por: Yang, Xiaoxu, et al.
Publicado: (2017)

Mosaicism and incomplete penetrance of PCDH19 mutations
por: Liu, Aijie, et al.
Publicado: (2019)

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome
por: Xu, Xiaojing, et al.
Publicado: (2015)

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

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients
por: Zhao, Ying, et al.
Publicado: (2014)

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs
por: Huang, August Yue, et al.
Publicado: (2018)

Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
por: Dou, Yanmei, et al.
Publicado: (2017)

Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals
por: Zhao, Boxun, et al.
Publicado: (2019)

ATP1A3 mosaicism in families with alternating hemiplegia of childhood
por: Yang, Xiaoling, et al.
Publicado: (2019)

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals
por: Yang, Xiaoxu, et al.
Publicado: (2020)

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia
por: Chen, Yan, et al.
Publicado: (2020)

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals
por: Huang, August Y, et al.
Publicado: (2014)

RJAfinder: An automated tool for quantification of responding to joint attention behaviors in autism spectrum disorder using eye tracking data
por: Zhang, Jie, et al.
Publicado: (2022)

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
por: Huang, August Yue, et al.
Publicado: (2017)

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes
por: Zhang, Linxia, et al.
Publicado: (2020)

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

Advances in the pathogenesis of Rett syndrome using cell models
por: Lu, Sijia, et al.
Publicado: (2022)

Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing
por: Renthal, William, et al.
Publicado: (2018)

Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
por: Takahashi, Satoru, et al.
Publicado: (2020)

A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations
por: Ye, Adam Yongxin, et al.
Publicado: (2018)

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations
por: Zhou, Wei‐Zhen, et al.
Publicado: (2019)

AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder
por: Yang, Changhong, et al.
Publicado: (2018)

Mitochondrial Dysfunction in the Pathogenesis of Rett Syndrome: Implications for Mitochondria-Targeted Therapies
por: Shulyakova, Natalya, et al.
Publicado: (2017)

Inheritance of Pigeonpea Sterility Mosaic Disease Resistance in Pigeonpea
por: Daspute, Abhijit, et al.
Publicado: (2014)

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
por: Nectoux, J, et al.
Publicado: (2010)

MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
por: Jin, Xu-Rui, et al.
Publicado: (2017)

Sensory Integration and Functional Reaching in Children With Rett Syndrome/Rett-Related Disorders
por: Drobnyk, Wendy, et al.
Publicado: (2019)

Rett syndrome
por: Sitholey, Prabhat, et al.
Publicado: (2005)

Rett syndrome with atrial tachycardia in a girl
por: Wang, Juanli, et al.
Publicado: (2022)

Pathogenesis of Lethal Aspiration Pneumonia in Mecp2-null Mouse Model for Rett Syndrome
por: Kida, Hiroshi, et al.
Publicado: (2017)

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
por: Alter, Svenja, et al.
Publicado: (2022)

Inheritance and QTL mapping of cucumber mosaic virus resistance in cucumber (Cucumis Sativus L.)
por: Shi, Lixue, et al.
Publicado: (2018)

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
por: Tascini, Giorgia, et al.
Publicado: (2022)

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
por: Grossi, Alice, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_gvv78orvhv9vjgut5mt0j6ldm7