Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study, we report twelve unrelated individuals with...

Full description

Bibliographic Details
Main Authors:	Jitao Zhu, Wenhui Li, Sha Yu, Wei Lu, Qiong Xu, Sujuan Wang, Yanyan Qian, Qiufang Guo, Suzhen Xu, Yao Wang, Ping Zhang, Xuemei Zhao, Qi Ni, Renchao Liu, Xu Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-03-01
Series:	Frontiers in Pediatrics
Subjects:	neurodevelopmental disorders (NDDs) exome sequencing EBF3 gene novel variants copy number variations (CNVs)
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2023.1091532/full

Similar Items

The diagnostic yield of CGH and WES in neurodevelopmental disorders
by: Raniah S. Alotibi, et al.
Published: (2023-03-01)

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
by: Evin M. Padhi, et al.
Published: (2021-07-01)

ASSESSMENT OF EXCLUSIVE BREASTFEEDING (EBF) KNOWLEDGE AND PRACTICES AMONG LACTATING MOTHERS IN SANGHAR, SINDH
by: Bashiran Chachar, et al.
Published: (2019-06-01)

Neurodevelopmental continuum and pathogenic CNV detection in adult onset psychiatric disorders: microarray analysis in psychiatric clinical practice
by: Á. Ruiz De Pellón Santamaría
Published: (2022-06-01)

Editorial: Aging with neurodevelopmental disorders (NDD)
by: Zheng Wang, et al.
Published: (2023-03-01)

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease
by: Fátima Lopes, et al.
Published: (2017-10-01)

Inclusion of Individuals With Neurodevelopmental Disorders in Norm-Referenced Language Assessments
by: Susan J. Loveall, et al.
Published: (2022-08-01)

Understanding patient characteristics and medication prescriptions in children with mental health and neurodevelopmental disorders referred to a sleep clinic—A quality improvement/quality assurance analysis
by: Osman S. Ipsiroglu, et al.
Published: (2022-11-01)

Simplified Evaluation of Plastic Rotation Demand for Existing EBFs Equipped with Short Links
by: Rosario Montuori, et al.
Published: (2022-06-01)

Evolution of the Human Brain Can Help Determine Pathophysiology of Neurodevelopmental Disorders
by: Koichiro Irie, et al.
Published: (2022-04-01)

Copy number variations in female infertility in China
by: Huang W, et al.
Published: (2019-08-01)

Editorial: In vitro and in vivo models for neurodevelopmental disorders
by: Angelica D'Amore, et al.
Published: (2023-07-01)

Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results
by: Carla Lintas, et al.
Published: (2021-10-01)

Ebf Activates Expression of a Cholinergic Locus in a Multipolar Motor Ganglion Interneuron Subtype in Ciona
by: Sydney Popsuj, et al.
Published: (2021-12-01)

Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders
by: Masashi Fujitani, et al.
Published: (2021-08-01)

A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies
by: Anna Minaidou, et al.
Published: (2022-12-01)

EBF1 Negatively Regulates Brassinosteroid-Induced Apical Hook Development and Cell Elongation through Promoting BZR1 Degradation
by: Na Zhao, et al.
Published: (2022-12-01)

Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
by: Lauren K. White, et al.
Published: (2023-01-01)

Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
by: Danijela Drakulic, et al.
Published: (2020-06-01)

Editorial: Decoding Brain Function Through Genetics
by: Kazuya Toriumi, et al.
Published: (2022-04-01)

Prenatal Environment and Neurodevelopmental Disorders
by: Miyuki Doi, et al.
Published: (2022-03-01)

Editorial: New Technologies and Rehabilitation in Neurodevelopment
by: Rosa Angela Fabio, et al.
Published: (2022-04-01)

Distribution and transmission of copy number variations of uncertain significance in 105 trios
by: Qiang Wen, et al.
Published: (2022-09-01)

Characterizing Creative Thinking and Creative Achievements in Relation to Symptoms of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder
by: Marije Stolte, et al.
Published: (2022-07-01)

Current trends of high-risk gene Cul3 in neurodevelopmental disorders
by: Ping Lin, et al.
Published: (2023-07-01)

Contribution of the dihydropyrimidinase-like proteins family in synaptic physiology and in neurodevelopmental disorders
by: Florence Desprez, et al.
Published: (2023-04-01)

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
by: Edoardo Errichiello, et al.
Published: (2021-01-01)

پهنه‌بندی حساسیت خطر سیل در حوضه آبخیز رودخانه کشکان با استفاده از دو مدل WOE و EBF
by: فهیمه آزادی, et al.
Published: (2020-05-01)

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
by: Francesco Paduano, et al.
Published: (2020-05-01)

Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies
by: Charlotte Roth, et al.
Published: (2023-02-01)

<i>auts2</i> Features and Expression Are Highly Conserved during Evolution Despite Different Evolutionary Fates Following Whole Genome Duplication
by: Constance Merdrignac, et al.
Published: (2022-08-01)

Expression of the schizophrenia associated gene FEZ1 in the early developing fetal human forebrain
by: Maznah Alhesain, et al.
Published: (2023-09-01)

A Novel Approach for Diagnosing Neuro-Developmental Disorders using Artificial Intelligence
by: Priyanka Vashisht, et al.
Published: (2023-03-01)

Novel Temporal Expression Patterns of EBF-Binding Proteins in Wing Morphs of The Grain Aphid Sitobion miscanthi
by: Siyu Zhang, et al.
Published: (2021-08-01)

Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders
by: Hosneara Akter, et al.
Published: (2023-03-01)

Temperature and strain-rate dependence of the superelastic response in EBF3-fabricated and post-heat-treated NiTi shape memory alloy
by: Binqiang Li, et al.
Published: (2024-01-01)

Review of the pharmacokinetics of nanodrugs
by: Shao Xiaotong, et al.
Published: (2023-03-01)

EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms
by: Li Li, et al.
Published: (2024-01-01)

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases
by: Panlai Shi, et al.
Published: (2019-10-01)

Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients
by: Mina Sharbatoghli, et al.
Published: (2022-07-01)