PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease
Abstract
:1. Introduction
2. Materials and Methods
2.1. Clinical Examination and Investigations
2.2. Animals and DNA Extraction
2.3. Whole Genome Sequencing (WGS)
2.4. Variant Calling
2.5. Gene Analysis
2.6. Allele-Specific PCR and Sanger Sequencing
3. Results
3.1. Clinical Phenotype
3.2. Pedigree Analysis and Mode of Inheritance
3.3. Whole Genome Sequencing
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Filtering Step | Heterozygous Variants | Homozygous Variants |
---|---|---|
Variants in the whole genome | 3,608,700 | 2,610,423 |
Private protein-changing variants | 2 | 2 a |
GG | GT | TT | |
---|---|---|---|
PKD-affected index female | - | 1 | - |
Unaffected parents of the PKD-affected index female | 2 | - | - |
PKD-affected offspring of the index female | - | 6 | - |
Unaffected related dogs (offspring and littermates of the index female) | 13 | - | - |
Other Lagotto Romagnolo dogs a | 103 | - | - |
Sequenced Lagotto Romagnolo genomes a | 26 | - | - |
Sequenced dog genomes from various other breeds a | 931 | - | - |
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Drögemüller, M.; Klein, N.; Steffensen, R.L.; Keiner, M.; Jagannathan, V.; Leeb, T. PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease. Genes 2023, 14, 1210. https://doi.org/10.3390/genes14061210
Drögemüller M, Klein N, Steffensen RL, Keiner M, Jagannathan V, Leeb T. PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease. Genes. 2023; 14(6):1210. https://doi.org/10.3390/genes14061210
Chicago/Turabian StyleDrögemüller, Michaela, Nadine Klein, Rikke Lill Steffensen, Miriam Keiner, Vidhya Jagannathan, and Tosso Leeb. 2023. "PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease" Genes 14, no. 6: 1210. https://doi.org/10.3390/genes14061210
APA StyleDrögemüller, M., Klein, N., Steffensen, R. L., Keiner, M., Jagannathan, V., & Leeb, T. (2023). PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease. Genes, 14(6), 1210. https://doi.org/10.3390/genes14061210