Cargando…

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a histopathological diagnosis of the sclerosis of glomeruli and the damage to renal podocytes. FSGS affects the filtration function of the kidneys and results in nephrotic syndrome (NS) in children and adults. FSGS is a clinically and genetica...

Descripción completa

Detalles Bibliográficos
Autores principales:	He, Zhechi, Wu, Ke, Xie, Wenqing, Chen, Jianghua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452832/ https://www.ncbi.nlm.nih.gov/pubmed/36090564 http://dx.doi.org/10.3389/fped.2022.930258

Ejemplares similares

Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation
por: Kakajiwala, Aadil K., et al.
Publicado: (2015)

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction
por: Park, Joonhong, et al.
Publicado: (2021)

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
por: Loid, Petra, et al.
Publicado: (2022)

Novel ACTN2 missense variant is associated with idiopathic ventricular fibrillation: a case report
por: Hou, Cody R, et al.
Publicado: (2022)

Cefepime-Induced Encephalopathy With Seizures in a Pediatric Patient With End-Stage Renal Disease Rapidly Reversed by High-Efficiency Hemodialysis
por: Shah, Siddharth, et al.
Publicado: (2021)

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
por: Hexner-Erlichman, Zufit, et al.
Publicado: (2022)

Dapsone-induced Methemoglobinemia in a Child with End-stage Renal Disease: A Brief Review
por: Chegondi, Madhuradhar, et al.
Publicado: (2018)

A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)
por: Wang, Xin Hua, et al.
Publicado: (2020)

Novel ACTN1 variants in cases of thrombocytopenia
por: Vincenot, Anne, et al.
Publicado: (2019)

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
por: Taylan, Christina, et al.
Publicado: (2020)

POGZ de novo missense variants in neuropsychiatric disorders
por: Zhao, Wenjing, et al.
Publicado: (2019)

Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report
por: Calvache, Carlos A., et al.
Publicado: (2022)

Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome
por: Gaefke, Claudia L., et al.
Publicado: (2021)

Component 1 Inhibitor Missense (Val480Met) Variant Is Associated With Gene Expression and Sepsis Development in Neonatal Lung Disease
por: Elngar, Enas F., et al.
Publicado: (2022)

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation
por: Nugud, Ahmed A., et al.
Publicado: (2021)

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency
por: Liu, Xiaoyu, et al.
Publicado: (2023)

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease
por: Naseer, Muhammad Imran, et al.
Publicado: (2022)

Change of guard at ACTN
por: Hoke, Ahmet
Publicado: (2023)

High Expression Levels of ACTN1 and ACTN3 Indicate Unfavorable Prognosis in Acute Myeloid Leukemia
por: Yang, Xinrui, et al.
Publicado: (2019)

Rhapsody: predicting the pathogenicity of human missense variants
por: Ponzoni, Luca, et al.
Publicado: (2020)

Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
por: Liao, Zhenyu, et al.
Publicado: (2022)

A Case of Immunotactoid Glomerulopathy with Rapid Progression to End-Stage Renal Disease
por: Jain, Shikha, et al.
Publicado: (2009)

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
por: Sanchis‐Juan, Alba, et al.
Publicado: (2020)

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
por: Watanabe, Kazuki, et al.
Publicado: (2023)

Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze
por: Zhang, Li-Ping, et al.
Publicado: (2021)

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome
por: Yang, Qi, et al.
Publicado: (2023)

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
por: Alhamoudi, Kheloud M., et al.
Publicado: (2020)

Interpretation of Autosomal Recessive Kidney Diseases With “Presumed Homozygous” Pathogenic Variants Should Consider Technical Pitfalls
por: Deng, Haiyue, et al.
Publicado: (2020)

Complex Inheritance of Rare Missense Variants in PAK2, TAP2, and PLCL1 Genes in a Consanguineous Arab Family With Multiple Autoimmune Diseases Including Celiac Disease
por: Alharthi, Arwa Mastoor, et al.
Publicado: (2022)

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
por: Wang, Hui, et al.
Publicado: (2022)

A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review
por: Chen, Yun, et al.
Publicado: (2020)

The ACTN3 R577X variant in sprint and strength performance
por: Kim, Hyeoijin, et al.
Publicado: (2014)

A recurrent homozygous ACTN2 variant associated with core myopathy
por: Inoue, Michio, et al.
Publicado: (2021)

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2
por: Broadway-Stringer, Sophie, et al.
Publicado: (2023)

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families
por: Naseer, Muhammad Imran, et al.
Publicado: (2022)

Performance evaluation of pathogenicity-computation methods for missense variants
por: Li, Jinchen, et al.
Publicado: (2018)

MVP predicts the pathogenicity of missense variants by deep learning
por: Qi, Hongjian, et al.
Publicado: (2021)

Improved pathogenicity prediction for rare human missense variants
por: Wu, Yingzhou, et al.
Publicado: (2021)

Improved pathogenicity prediction for rare human missense variants
por: Wu, Yingzhou, et al.
Publicado: (2021)

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
por: Zhao, Weiqing, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_qm75rq9tut4kuc660r0ibtifgf