Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta

CONCLUSIONS: This study helps to show that a customized gene panel is the first-line method of choice for studying patients with ADPKD followed by WES which increased the detection of variants present in the PKD1 pseudogene region. A founder variant in the PKD2 gene was identified in our Maltese cohort with ADPKD. Phenotype of patients with ADPKD is significantly related to the genotype confirming the important role of molecular investigations in the diagnosis and prognosis of polycystic kidney disease. Moreover, the findings also highlight the variability in the clinical phenotype and indicate that other factors including epigenetic and environmental maybe be important determinants in Autosomal Dominant Polycystic Kidney Disease.PMID:38537868 | DOI:10.1016/j.ejmg.2024.104934
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research