Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis
Abstract
1. Introduction
2. Case Presentation
2.1. Massively Parallel Sequencing
2.2. Sanger Sequencing
2.3. Likelihood Ratio (LR) for Relative Pairs Using Autosomal STRs
3. Discussion
4. Materials and Methods
4.1. Massively Parallel Sequencing and Sanger Sequencing
4.2. Multiple Sequence Alignment
4.3. Calculating the Degree of Relationships of the Proband’s Parents
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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№ | Patient’s Age | Type of Fracture | Bones |
---|---|---|---|
1 | 8 years old | Closed fracture | the left fibula |
2 | 9 years old | Closed fracture | the right fibula |
3 | 10 years old | Closed fracture | the tarsal bones of the right foot |
4 | 12 years old | Repeated closed fracture | the right tarsal bones |
5 | 16 years old | Repeated closed fracture | the left fibula |
6 | 20 years old | Closed fracture | the right tibia |
7 | 30 years old | Closed fracture | the middle third of the left tibia |
8 | 32 years old | Closed transverse fracture with displacement of fragment | the middle third of the right femur |
9 | 37 years old | Closed peri-implant fracture with displacement of fragment | the right femur |
Person 1 | Person 2 | Relationship | LR | IBS = 2 | IBS = 1 | IBS = 0 |
---|---|---|---|---|---|---|
D9119 | D9118_dg3 | 2nd Cousins | 8.44854 | 6% | 41% | 53% |
D9119 | D9118_dg1 | 2nd Cousins | 8.19546 | 6% | 41% | 53% |
D9119 | D9118_dg4 | 2nd Cousins | 6.84144 | 6% | 41% | 53% |
D9119 | D9118_d3 | 2nd Cousins | 6.81609 | 0% | 47% | 53% |
D9119 | D9118_dg2 | 2nd Cousins | 6.6365 | 6% | 41% | 53% |
D9119 | D9118_d1 | 2nd Cousins | 6.61191 | 0% | 47% | 53% |
D9119 | D9118_d4 | 2nd Cousins | 5.51952 | 0% | 47% | 53% |
D9119 | D9118_d2 | 2nd Cousins | 5.35418 | 0% | 47% | 53% |
RUS42 | RUSk77 | 2nd Cousins | 4.78296 | 6% | 65% | 29% |
RUSk26 | RUSk66 | 2nd Cousins | 4.49137 | 13% | 56% | 31% |
RUSk4 | RUSk7 | 2nd Cousins | 4.43016 | 12% | 65% | 24% |
RUS57 | RUSk64 | 2nd Cousins | 4.02469 | 6% | 47% | 47% |
RUS15 | RUSk46 | 2nd Cousins | 3.70891 | 18% | 59% | 24% |
RUS63 | RUSk53 | 2nd Cousins | 3.54992 | 6% | 81% | 13% |
RUSk2 | RUSk7 | 2nd Cousins | 3.50763 | 12% | 53% | 35% |
RUS9 | RUSk76 | 2nd Cousins | 3.4613 | 18% | 47% | 35% |
RUS32 | RUSk40 | 2nd Cousins | 3.37673 | 18% | 59% | 24% |
RUS39 | RUSk52 | 2nd Cousins | 3.31093 | 18% | 65% | 18% |
RUSk45 | RUSk63 | 2nd Cousins | 3.24991 | 13% | 73% | 13% |
RUS16 | RUSk38 | 2nd Cousins | 3.14799 | 12% | 47% | 41% |
RUS8 | RUS16 | 2nd Cousins | 3.10237 | 12% | 59% | 29% |
RUS59 | RUSk36 | 2nd Cousins | 3.05579 | 12% | 59% | 29% |
RUSk46 | RUSk47 | 2nd Cousins | 3.00883 | 18% | 47% | 35% |
Organism | NCBI Gene ID | Sequence Around the Variant | Sequence Coordinates |
---|---|---|---|
Danio rerio | NC_007127.7: 29492994–29502549 ctsk | ––––GCAGAGAA | NC_007127.7: 29497635–29497647 |
Mus musculus | NC_000069.7: 95406521–95416698 Ctsk | ATCAGGAAAGTA | NC_000069.7: 95409315–95409327 |
Gallus gallus | NC_052556.1: c2553581–2550760 CTSK | ––––––––––––––––– | 0 |
Pan troglodytes | NC_072398.2: 98404833–98418903 CTSK | ATCAGCAAGATA | NC_072398.2: 98410255–98410267 |
Homo sapiens | NC_000001.11: c150808260–150796208 CTSK | ATCAGCAAGATA | NC_000001.11: 150799619–150799631 |
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Zhalsanova, I.Z.; Fonova, E.A.; Valiakhmetov, N.R.; Kolesnikov, N.A.; Gosudarkina, S.N.; Agafonova, A.A.; Ravzhaeva, E.G.; Seitova, G.N.; Stepanov, V.A.; Skryabin, N.A. Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis. Int. J. Mol. Sci. 2024, 25, 13025. https://doi.org/10.3390/ijms252313025
Zhalsanova IZ, Fonova EA, Valiakhmetov NR, Kolesnikov NA, Gosudarkina SN, Agafonova AA, Ravzhaeva EG, Seitova GN, Stepanov VA, Skryabin NA. Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis. International Journal of Molecular Sciences. 2024; 25(23):13025. https://doi.org/10.3390/ijms252313025
Chicago/Turabian StyleZhalsanova, Irina Zhargalovna, Elizaveta Alekseevna Fonova, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Sofia Nikolaevna Gosudarkina, Anna Aleksandrovna Agafonova, Ekaterina Georgievna Ravzhaeva, Gulnara Narimanovna Seitova, Vadim Anatolyevich Stepanov, and Nikolay Alekseevich Skryabin. 2024. "Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis" International Journal of Molecular Sciences 25, no. 23: 13025. https://doi.org/10.3390/ijms252313025
APA StyleZhalsanova, I. Z., Fonova, E. A., Valiakhmetov, N. R., Kolesnikov, N. A., Gosudarkina, S. N., Agafonova, A. A., Ravzhaeva, E. G., Seitova, G. N., Stepanov, V. A., & Skryabin, N. A. (2024). Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis. International Journal of Molecular Sciences, 25(23), 13025. https://doi.org/10.3390/ijms252313025