LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia
Abstract
:1. Introduction
2. Materials and Methods
2.1. Animals
2.2. Clinical Examinations
2.3. Necropsy and Histopathological Examination
2.4. Immunohistochemistry
2.5. DNA Isolation
2.6. Whole Genome Sequencing of an Affected Kitten
2.7. Variant Calling
2.8. Gene Analysis
2.9. Targeted Genotyping and Sanger Sequencing
3. Results
3.1. Phenotype Description
3.2. Genetic Analysis
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 | Variants |
---|---|
Variants in whole genome | 5,759,180 |
Private variants (absent from 62 control genomes) | 7398 |
Protein-changing private variants | 55 |
Phenotype | CAPN1:c.1295G>A | LTBP3:c.158delG |
---|---|---|
Cases (n = 2) | A/A | del/del |
Non-affected parents (n = 2) | G/A | wt/del |
Non-affected British Shorthair cats (n = 6) | G/G | wt/wt |
Random-bred cats and cats from other breeds (n = 90) | G/G | wt/wt |
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Rudd Garces, G.; Knebel, A.; Hülskötter, K.; Jagannathan, V.; Störk, T.; Hewicker-Trautwein, M.; Leeb, T.; Volk, H.A. LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia. Genes 2021, 12, 1923. https://doi.org/10.3390/genes12121923
Rudd Garces G, Knebel A, Hülskötter K, Jagannathan V, Störk T, Hewicker-Trautwein M, Leeb T, Volk HA. LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia. Genes. 2021; 12(12):1923. https://doi.org/10.3390/genes12121923
Chicago/Turabian StyleRudd Garces, Gabriela, Anna Knebel, Kirsten Hülskötter, Vidhya Jagannathan, Theresa Störk, Marion Hewicker-Trautwein, Tosso Leeb, and Holger A. Volk. 2021. "LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia" Genes 12, no. 12: 1923. https://doi.org/10.3390/genes12121923