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Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders. Genetic studies have demonstrated an important allelic variability among patients but very few data are known about the genetic variation in Iranian populations. Case Presentation: In this study, in order to verify the ADPKD in a patient with some clinical symptoms and study the variations of the PKD1 gene for the first time in Iranian population, the PKD1 gene was entirely sequenced. Coding exons analysis of PKD1 by exon direct sequencing was performed. Molecular genetic testing found a novel mutation in the patient. Conclusions: It was a missense mutation CAT > GAT at position 3311 in exon 30 of PKD1. CAT > GAT causes the conversion of amino acids histidine to argenine and change the transmembrane domain and proper function of the polycystin 1 protein.

A Novel CAT > GAT (H 3311R) Missense Mutation in Exon 30 of the PKD1 Gene in a Patient Affected With Autosomal Dominant Polycystic Kidney