Cargando…

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

BACKGROUND: Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Studies showed that some aberrant splicing variants, which are either not readily...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Qiang, Wang, Yiting, Pan, Yijun, Wang, Jia, Yu, Weishi, Wang, Xiaodong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188693/ https://www.ncbi.nlm.nih.gov/pubmed/34107977 http://dx.doi.org/10.1186/s12920-021-01008-8

Ejemplares similares

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
por: Kurosawa, Ryo, et al.
Publicado: (2023)

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
por: da Palma, Mariana Matioli, et al.
Publicado: (2020)

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity
por: Hirschi, Owen R., et al.
Publicado: (2023)

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
por: Kaltak, Melita, et al.
Publicado: (2023)

An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM
por: Pastor, Tibor, et al.
Publicado: (2009)

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
por: Tamayo, Alejandra, et al.
Publicado: (2023)

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing
por: Deng, Haiyue, et al.
Publicado: (2022)

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing
por: Grosz, Bianca R., et al.
Publicado: (2022)

Genome editing of patient-derived iPSCs identifies a deep intronic variant causing aberrant splicing in hemophilia A
por: Hiramoto, Takafumi, et al.
Publicado: (2023)

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy
por: Xie, Zhiying, et al.
Publicado: (2022)

Improved detection of aberrant splicing using the Intron Jaccard Index
por: Scheller, Ines F., et al.
Publicado: (2023)

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
por: Fadaie, Zeinab, et al.
Publicado: (2019)

A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient
por: Conboy, John G.
Publicado: (2021)

An intron 9 containing splice variant of PAX2
por: Busse, Antonia, et al.
Publicado: (2009)

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
por: Verdura, Edgard, et al.
Publicado: (2019)

Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
por: Hort, Yvonne, et al.
Publicado: (2023)

A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene
por: Zhou, Xiaoying, et al.
Publicado: (2021)

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis
por: Catania, Alessia, et al.
Publicado: (2018)

Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition
por: Královičová, Jana, et al.
Publicado: (2007)

Unraveling the mechanism of recognition of the 3’ splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60
por: Hsiao, Hsin-hao T., et al.
Publicado: (2020)

In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
por: Smith, Chris, et al.
Publicado: (2021)

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
por: Moles-Fernández, Alejandro, et al.
Publicado: (2021)

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome
por: Madan, Vikas, et al.
Publicado: (2015)

Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis
por: Lu, Ying-Qian, et al.
Publicado: (2022)

Synonymous codon usage bias is correlative to intron number and shows disequilibrium among exons in plants
por: Qin, Zhen, et al.
Publicado: (2013)

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data
por: Zhang, Li, et al.
Publicado: (2023)

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization
por: Di Scipio, Matteo, et al.
Publicado: (2020)

Primate and Rodent Specific Intron Gains and the Origin of Retrogenes with Splice Variants
por: Szcześniak, Michał W, et al.
Publicado: (2011)

Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome
por: Chen, Hannah Jinlian, et al.
Publicado: (2017)

An Alternative Splice Variant of HIPK2 with Intron Retention Contributes to Cytokinesis
por: Gatti, Veronica, et al.
Publicado: (2020)

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome
por: Qian, Pei, et al.
Publicado: (2023)

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing
por: Bolognini, Ramona, et al.
Publicado: (2017)

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non‐coding RNA and synonymous mutations
por: Diederichs, Sven, et al.
Publicado: (2016)

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases
por: Qian, Xinye, et al.
Publicado: (2021)

Intron mis-splicing: no alternative?
por: Roy, Scott William, et al.
Publicado: (2008)

Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-Derived Intronic Splicing Enhancer Regulates ATM Aberrant Splicing
por: Pastor, Tibor, et al.
Publicado: (2011)

An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome
por: Ogier, Jacqueline M., et al.
Publicado: (2018)

Intronic Splicing Enhancers, Cognate Splicing Factors and Context Dependent Regulation Rules
por: Wang, Yang, et al.
Publicado: (2012)

Unraveling the role of non-coding rare variants in epilepsy
por: Girard, Alexandre, et al.
Publicado: (2023)

Synonymous Codon Usage Bias in Plant Mitochondrial Genes Is Associated with Intron Number and Mirrors Species Evolution
por: Xu, Wenjing, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_shego473h4rgi43va5r7jb0v22