Mutations in PKD1 result in the most common form of autosomal dominant polycystic kidney disease (ADPKD).
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.
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.
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.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 30 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
None (2005) ADPKD: molecular characterization and quest for treatment. |
2. |
Torres VE et al. (2006) Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. |
3. |
de Fallois J et al. (2021) Challenging Disease Ontology by Instances of Atypical and Genetics. |
4. |
NCBI article NCBI 5310 |
5. |
OMIM.ORG article Omim 601313 |
6. |
Orphanet article Orphanet ID 117846 |
7. |
Wikipedia article Wikipedia EN (Polycystin_1) |