Cargando…

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal diseas...

Descripción completa

Detalles Bibliográficos
Autores principales:	Han, Kyoung Hee, Park, Jong Eun, Ki, Chang-Seok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Pediatric Society 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528060/ https://www.ncbi.nlm.nih.gov/pubmed/30477285 http://dx.doi.org/10.3345/kjp.2018.06772

Ejemplares similares

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
por: Maasalu, Katre, et al.
Publicado: (2015)

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
por: Chiereghin, Chiara, et al.
Publicado: (2017)

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine
por: Antón-Martín, Pilar, et al.
Publicado: (2012)

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome
por: Helle, Ole Magnus Bjorgaas, et al.
Publicado: (2020)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
por: Liu, Jian-Hong, et al.
Publicado: (2017)

Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
por: Yoo, Hee Jeong, et al.
Publicado: (2015)

Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family
por: Watanabe, Hirofumi, et al.
Publicado: (2023)

Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome
por: Wang, Zhendong, et al.
Publicado: (2020)

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review
por: Gong, Wen-yu, et al.
Publicado: (2021)

Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma
por: Lee, Junwon, et al.
Publicado: (2020)

Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder
por: Kim, Namshin, et al.
Publicado: (2020)

Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases
por: Wang, Linlin, et al.
Publicado: (2019)

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome
por: Zhao, Xuechao, et al.
Publicado: (2020)

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
por: Robinson, Peter N
Publicado: (2010)

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome
por: Gibson, Joel T., et al.
Publicado: (2022)

Exome sequencing to identify de novo mutations in sporadic ALS trios
por: Chesi, Alessandra, et al.
Publicado: (2013)

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
por: Deng, Sheng, et al.
Publicado: (2016)

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome
por: Yavaş, Cüneyd, et al.
Publicado: (2022)

COL4A6 is dispensable for autosomal recessive Alport syndrome
por: Murata, Tomohiro, et al.
Publicado: (2016)

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
por: Zhao, Xuechao, et al.
Publicado: (2019)

Novel heterozygous mutation in COL4A4 responsible for Alport syndrome in a Chinese family
por: Du, Ran, et al.
Publicado: (2022)

Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
por: Lin, Zhongdong, et al.
Publicado: (2017)

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly
por: Yang, Mei, et al.
Publicado: (2022)

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease
por: Lin, Fujun, et al.
Publicado: (2014)

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
por: Qiao, Fengchang, et al.
Publicado: (2019)

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
por: Kim, Hee-Jin, et al.
Publicado: (2013)

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane
por: Corominas, Jordi, et al.
Publicado: (2018)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
por: O’Roak, Brian J., et al.
Publicado: (2011)

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
por: Jang, Mi-Ae, et al.
Publicado: (2015)

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
por: Hannah-Shmouni, Fady, et al.
Publicado: (2019)

Whole exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas
por: Fishbein, Lauren, et al.
Publicado: (2015)

Whole-exome sequencing identifies prognostic mutational signatures in gastric cancer
por: Zhu, Zhenxin, et al.
Publicado: (2020)

A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
por: Xiu, Xiaofei, et al.
Publicado: (2014)

A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
por: Oduware, Emmanuel, et al.
Publicado: (2021)

Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5
por: Pan, Shujun, et al.
Publicado: (2023)

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
por: Kamura, Misato, et al.
Publicado: (2020)

Whole‐exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability
por: Zhang, Wenqiu, et al.
Publicado: (2022)

Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
por: Jeon, Ga Won, et al.
Publicado: (2014)

De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application
por: Wang, Weidi, et al.
Publicado: (2019)

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome
por: Haghighi, Alireza, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_ioa4r6ecd0ms0paqqct58tpbd2