The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis
Abstract
:1. Introduction
2. Results and Discussion
2.1. Results
Items | Patient’s Value | Reference Range |
---|---|---|
Serum Ca (mmol/L) | 2.33 | 2.13–2.7 |
Serum Pi (mmol/L) | 1.81 | 1.13–1.87 (for children) |
ALP (U/L) | 219 | 42–390 |
PTH (pg/mL) | 107 | 12–65 |
FT3 (pg/mL) | 3.91 | 1.8–4.1 |
FT4 (ng/dL) | 1.18 | 0.81–1.89 |
TSH (μIU/mL) | 7.902 | 0.38–4.34 |
IGF-1 (ng/mL) | 576 | 111–551 |
24 h-uCa (mmol) | 0.76 | - |
24 h-uP (mmol) | 29.22 | - |
2.2. Discussion
3. Experimental Section
3.1. Mutation Analysis
Species | Amino Acid Sequence | |||||||
---|---|---|---|---|---|---|---|---|
Human | …… | E | P | G | D | E | F | …… |
Rhesus | …… | E | P | G | D | E | F | …… |
Mouse | …… | E | P | G | D | E | F | …… |
Dog | …… | E | P | G | D | E | F | …… |
Elephant | …… | E | P | G | D | E | F | …… |
Opossum | …… | E | P | G | D | E | F | …… |
Chicken | …… | E | P | G | D | E | F | …… |
X-tropicalis | …… | E | P | G | D | E | F | …… |
Zebrafish | …… | Q | P | G | D | E | F | …… |
3.2. Prediction of Mutant PRKAR1A Protein Function
3.3. Ethics Statement
4. Conclusions
Supplementary Files
Supplementary File 1Acknowledgments
Author Contributions
Conflicts of Interest
References
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Li, N.; Nie, M.; Li, M.; Jiang, Y.; Xing, X.; Wang, O.; Li, C.; Xia, W. The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis. Int. J. Mol. Sci. 2014, 15, 13267-13274. https://doi.org/10.3390/ijms150813267
Li N, Nie M, Li M, Jiang Y, Xing X, Wang O, Li C, Xia W. The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis. International Journal of Molecular Sciences. 2014; 15(8):13267-13274. https://doi.org/10.3390/ijms150813267
Chicago/Turabian StyleLi, Nan, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Chunlin Li, and Weibo Xia. 2014. "The First Mutation Identified in a Chinese Acrodysostosis Patient Confirms a p.G289E Variation of PRKAR1A Causes Acrodysostosis" International Journal of Molecular Sciences 15, no. 8: 13267-13274. https://doi.org/10.3390/ijms150813267