Cargando…

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c.19049_19050delCA (p.Thr6350Argfs*14) and two doub...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Yuefang, Xu, Juan, Lv, Qiaoyi, Liang, Zhe, Li, Lingling, Pan, Qiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512086/ https://www.ncbi.nlm.nih.gov/pubmed/37745844 http://dx.doi.org/10.3389/fgene.2023.1220170

Ejemplares similares

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy
por: Skrypnyk, Cristina, et al.
Publicado: (2023)

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review
por: Liu, Fang, et al.
Publicado: (2023)

A Frameshift RBM10 Variant Associated With TARP Syndrome
por: Daicheng, Han, et al.
Publicado: (2022)

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant
por: Linhares, Natália Duarte, et al.
Publicado: (2022)

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies
por: Liu, Yuefang, et al.
Publicado: (2021)

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies
por: Ji, Weigang, et al.
Publicado: (2022)

Identification of a Novel Canonical Splice Site Variant TSC2 c.2967-1G>T That is Not Associated With Tuberous Sclerosis Pathogenesis
por: Duan, Jing, et al.
Publicado: (2022)

A frameshift variant in the SIRPB1 gene confers susceptibility to Crohn’s disease in a Chinese population
por: Tang, Jian, et al.
Publicado: (2023)

Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report
por: Tamhankar, Vasundhara, et al.
Publicado: (2021)

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
por: Kausar, Mehran, et al.
Publicado: (2019)

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds
por: Ahram, Dina F., et al.
Publicado: (2015)

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
por: Ohara, Masahiro, et al.
Publicado: (2020)

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant
por: Dabaj, Ivana, et al.
Publicado: (2023)

Comprehensive Cis-Regulation Analysis of Genetic Variants in Human Lymphoblastoid Cell Lines
por: Wang, Ying, et al.
Publicado: (2019)

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation
por: Shestak, Anna G., et al.
Publicado: (2021)

Biallelic TOR1A variants in an infant with severe arthrogryposis
por: Reichert, Sara Chadwick, et al.
Publicado: (2017)

Case report: Application of targeted NGS for the detection of non-canonical driver variants in MPN
por: Zhang, Jin, et al.
Publicado: (2023)

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

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta
por: Li, Lulu, et al.
Publicado: (2019)

Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification
por: Shen, Yuqi, et al.
Publicado: (2021)

Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants
por: Jiang, Fan, et al.
Publicado: (2023)

IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling
por: Takeda, Jun-ichi, et al.
Publicado: (2021)

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
por: Maia, Nuno, et al.
Publicado: (2020)

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome
por: Shi, Meizhen, et al.
Publicado: (2022)

Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy
por: Chen, Wenjie, et al.
Publicado: (2021)

All reported non-canonical splice site variants in GLA cause aberrant splicing
por: Okada, Eri, et al.
Publicado: (2023)

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay
por: Wang, Yanyun, et al.
Publicado: (2019)

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation
por: Thompson, Bryony A., et al.
Publicado: (2020)

Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome
por: Wang, Chunli, et al.
Publicado: (2020)

Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita
por: Busack, Brit, et al.
Publicado: (2020)

A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle
por: Agerholm, Jørgen S., et al.
Publicado: (2016)

Frameshift Variant in Novel Adenosine-A1-Receptor Homolog Associated With Bovine Spastic Syndrome/Late-Onset Bovine Spastic Paresis in Holstein Sires
por: Krull, Frederik, et al.
Publicado: (2020)

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features
por: Mroczek, Magdalena, et al.
Publicado: (2016)

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)
por: Fan, Lihong, et al.
Publicado: (2022)

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays
por: Lin, Jin-Huan, et al.
Publicado: (2021)

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
por: Walker, Logan C., et al.
Publicado: (2019)

Generation of hiPSCs with ABO c.767T>C substitution: resulting in splicing variants
por: Jin, Yinge, et al.
Publicado: (2023)

What Do Neighbors Tell About You: The Local Context of Cis-Regulatory Modules Complicates Prediction of Regulatory Variants
por: Penzar, Dmitry D., et al.
Publicado: (2019)

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
por: Gueneau, Lucie, et al.
Publicado: (2018)

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
por: Chong, Jessica X., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_4t0bkhv3fcocochdcqucmht1ch