PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

∗ Corresponding author: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Email: [email protected] eporting novel mutations in genes related to human disorders along with their clinical complications can help prenatal diagnosis of the diseases through molecular genetic tests and also make it possible to predict the prognosis of...

Autosomal dominant polycystic kidney disease.

The lack of reliable data on frequency, age of onset, survival, spontaneous mutation rate and prognosis in autosomal dominant polycystic kidney disease is a continual source of frustration to physicians involved in counselling patients and their relatives. The only major study to address all of these issues in a defined population was presented by Dalgaard as a 251-page doctoral thesis in 1957 ...