Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Polycystin 1

Mutations in PKD1 result in the most common form of autosomal dominant polycystic kidney disease (ADPKD).

Epidemiology

The prevalence of autosomal dominant polycystic kidney disease (ADPKD) is 1:400 to 1:1,000 live births. It is not only one of the most common monogenic hereditary diseases; it is also the third most common single cause of end-stage renal disease. Mutations of the PKD1 gene account for about 85% of ADPKD.

Gene Structure

The PKD1 gene spans about 48kb and consists of 46 exons. The gene is located on chromosome 16 (16p13.3-p13.12). The anterior part of the gene is duplicated several times on chromosome 16. These repetitive structures show 95% sequence homology. These gene fragments are transcribed but not translated, so they are considered pseudogenes.

Phenotype

The most obvious symptom is enlarging renal cysts. Such cysts may also occur in the liver, pancreas, arachnoid membrane, and seminal vesicles. Vascular abnormalities include intracranial aneurysms and dolichoectasias, dilatation of the aortic root, and dissection of the thoracic aorta. Also common are mitral valve prolaps and abdominal wall hernias.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Polycystic kidney disease 1
PKD1

References:

1.

Horie S et al. (2005) ADPKD: molecular characterization and quest for treatment.

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2.

Torres VE et al. (2006) Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases.

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Update: Sept. 26, 2018