ArticleFrontiers in genetics2019
GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 17 citations in OpenAlex.
- GANAB-related Polycystic Kidney Disease Mimicking the Cutaneous Findings of Neurofibromatosis Type 1.Kidney medicine · 2026Article
- Case Report: Budd-Chiari-like syndrome in a cat with polycystic kidney and liver disease.Frontiers in veterinary science · 2025Article
- Increased Expression of Orexin-A in Patients Affected by Polycystic Kidney Disease.International journal of molecular sciences · 2024Article
- Novel enhancer mediates theFrontiers in genetics · 2023Article
- Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.Journal of nephrology · 2022Article
- The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.Pediatric nephrology (Berlin, Germany) · 2022Review
- Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with aBiomedical reports · 2022Article
- Recent advances in understanding ion transport mechanisms in polycystic kidney disease.Clinical science (London, England : 1979) · 2021Review
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3 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (ESKD). Polycystic kidney disease-3 (PKD3), another form of ADPKD, is caused by mutations in glucosidase II alpha subunit (GANAB) gene and present in mid- and late adulthood. We report a description of an ADPKD case in a 12-year-old female presented bilateral renal cysts in adolescence. Two mutations in two genes PKD1 and GANAB were identified by targeted capture and next-generation sequencing (NGS) on an Illumina sequencing system. The identified PKD1 mutation p.Pro61Leu: c.182C > T (CCC > CTC) a missense type of uncertain clinical significance. However, the identified PKD1 mutation can alter transcription factors motifs and consequently disturb the transcription process. The second mutation identified in GANAB locus, p.Arg61Ter: c.181C > T, a nonsense type, CGA > TGA. The mutation is unreported pathogenic variant can cause loss of the glucosidase II alpha subunit normal protein function. Both the patient father and paternal grandmother had a history of ADPKD but never were tested. This case is the first case of combine presentation on PKD1 and PKD3 in a pediatric patient with nephrolithiasis.
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