New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report

Forero-Delgadillo, Jessica María; Ochoa, Vanessa; Duque, Natalia; Restrepo, Juan Guillermo; Londoño, Hernando; Nastasi-Catanese, José Antonio; Pachajoa, Harry

doi:10.1177/1179556521992354

Cited by 4 publications

(5 citation statements)

References 20 publications

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“…Hsa-mir-21-5p [576] and PAX2 [577] are believed to be associated with FSGS. Liu et al [578], Park et al [579], Yang et al [580], Yu et al [581] and Forero-Delgadillo et al [582] mentioned that hsa-mir-21-5p, STAT3, STAT1, GATA2 and PAX2 were related to other kidney diseases. Studies have indicated that hsa-mir-21-5p [583], STAT3 [584], STAT1 [585] and GATA2 [586] plays a substantial role in hypertension.…”

Section: Discussionmentioning

confidence: 99%

Identification of biomarkers and pathways for focal segmental glomerulosclerosis using next generation sequencing data and bioinformatics analysis

Vastrad¹,

Vastrad²

2022

Preprint

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Focal segmental glomerulosclerosis (FSGS) is a renal disease leading threat to human health around the world. Here we aimed to explore novel molecular and potential therapeutic targets in FSGS through adopting integrated bioinformatics tools. Next generation sequencing (NGS) data of GSE197307 was available from Gene Expression Omnibus (GEO) database. Furthermore, differentially expressed genes (DEGs) were screened using the DESeq2 package in R software. Gene ontology (GO) and REACTOME pathway enrichment analyses of DEGs were performed via g:Profiler. Then, the protein-protein interaction (PPI) network, miRNA- hub gene regulatory network and TF-hub gene regulatory network were constructed using the HIPPIE, miRNet and NetworkAnalyst databases. Hub genes were validated using the receiver operating characteristic curve (ROC) analysis. By performing DEGs analysis, 488 up regulated genes and 488 down regulated genes were successfully identified from GSE197307, respectively. And they were mainly enriched in the terms of multicellular organismal process, cell periphery, protein binding, metabolism, immune system process, signaling receptor binding and immune system. Based on the data of protein-protein interaction (PPI), miRNA-hub gene regulatory network and TF-hub gene regulatory network, the top hub genes were ranked, including ILK, DDX5, MATR3, ALB, FOS, MKI67, PLK1, TNF, LCK and GTSE1. Bioinformatics analysis of NGS data identified signaling pathways and hub genes, potentially representing molecular mechanisms for the occurrence, progression, and risk prediction in FSGS.

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Section: Discussionmentioning

confidence: 99%

Identification of biomarkers and pathways for focal segmental glomerulosclerosis using next generation sequencing data and bioinformatics analysis

Vastrad¹,

Vastrad²

2022

Preprint

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“…Se manifiesta con hipo/displasia renal y displasia o coloboma del nervio óptico principalmente. También se puede presentar hipoacusia neurosensorial bilateral e hiperlaxitud articular y de la piel 14,15 .…”

Section: Anomalías Congénitas Del Riñón Y Tracto Urinario (Cakut)unclassified

Importancia de la genética en la nefrología pediátrica

Lores,

Pachajoa,

Ochoa

et al. 2023

Andes pediatr

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Los avances en el campo de la genética y genómica han tenido un gran impacto en la práctica clínica del nefrólogo pediatra. El acceso a estudios genéticos diagnósticos para patologías renales permite no solo confirmar diagnósticos específicos, sino también poder brindar estrategias de manejo y seguimiento, conocimiento sobre el pronóstico y prevención de complicaciones. Adicionalmente, permite proveer asesoramiento genético al paciente y su familia, e incluso ayudar a tomar decisiones sobre trasplante de donante familiar. El objetivo de esta revisión es cubrir conocimientos básicos de genética, tecnologías disponibles para el diagnóstico genético, principales grupos de enfermedades renales que se benefician de estos estudios y la importancia de su enfoque en la práctica clínica médica. Se resalta el papel trascendente de la acción colaborativa entre nefrólogos pediatras y genetistas clínicos en un equipo multidisciplinario que conlleve a un adecuado enfoque diagnóstico en los pacientes y soporte una práctica clínica de calidad.

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“…Until 2021, 92% of the PAX2 mutations that had been described had kidney dysfunction of varied degrees, 77% presented colobomas or ocular dysplasia and 7% had hearing loss [ 34 , 35 ].…”

Section: Pax2 Gene and Kidneysmentioning

confidence: 99%

“…A PAX2 mutation was identified in a patient with a prenatal diagnosis of the Potter sequence, and a postnatal ultrasound revealed renal cysts [ 34 ]. The variant found in this case was not found in either of the patient’s parents, so it was considered a de novo mutation.…”

Section: Pax2 Gene and Kidneysmentioning

confidence: 99%

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PAX2 Gene Mutation in Pediatric Renal Disorders—A Narrative Review

Muntean,

Chirtes,

Baczoni

et al. 2023

IJMS

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The PAX2 gene is a transcription factor that is essential for the development of the urinary system among other transcription factors. The role of PAX2 is highlighted from the seventh week of gestation, when it is involved in development processes and the emergence of nephrons and collecting tubes. Being an important factor in renal development, mutations of this gene can produce severe alterations in the development of the urinary tract, namely congenital anomalies of the kidneys and urinary tract. The first reported cases described with the PAX2 mutation included both renal anomalies and the involvement of other organs, such as the eyes, producing renal coloboma syndrome. Over the years, numerous cases have been reported, including those with only renal and urinary tract anomalies. The aim of this review is to present a summary of pediatric patients described to have mutations in the PAX2 gene to contribute to a better understanding of the genetic mechanism causing anomalies of the kidneys and urinary tract. In this review, we have included only pediatric cases with renal and urinary tract disorders, without the involvement of other organs. From what we know so far from the literature, this is the first review gathering pediatric patients presenting the PAX2 mutation who have been diagnosed exclusively with renal and urinary tract disorders.

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New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report

Cited by 4 publications

References 20 publications

Identification of biomarkers and pathways for focal segmental glomerulosclerosis using next generation sequencing data and bioinformatics analysis

Identification of biomarkers and pathways for focal segmental glomerulosclerosis using next generation sequencing data and bioinformatics analysis

Importancia de la genética en la nefrología pediátrica

PAX2 Gene Mutation in Pediatric Renal Disorders—A Narrative Review

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