New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report
The identification of a heterozygous six-nucleotide deletion, c.2084_2089del, resulting in the in-frame deletion of two amino acids, p.Pro695_Ala696del, in the <i>PKD1</i> gene, has been linked with ADPKD in these patients. This report emphasizes the need for continuous updates to genetic data for a deeper understanding of the diagnosis and prognosis of ADPKD that could potentially aid in targeted therapy.
Authors
- Manisha Singh (ORCID: https://orcid.org/0000-0002-6014-1337)
- Vanya Rai
- Joseph H. Holthoff (ORCID: https://orcid.org/0000-0002-7098-7811)
Institutions
- Mayo Clinic (US)
- University of Arkansas for Medical Sciences (US)
Publication Details
- Journal
- Genes
- Published
- 2024-09-27
- DOI
- https://doi.org/10.3390/genes15101262
- Citations
- 3
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- University of Arkansas for Medical Sciences