Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy

Conclusions
Our study demonstrates for the first time that the variants in the S6K1 gene are associated with HCM, and early detection of the S6K1 variant carriers can help to identify family members at risk and subsequent preventive measures. Further screening in patients with HCM with different ethnic populations will establish the specificity and frequency of S6K1 gene variants.

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Jain, P. K., Jayappa, S., Sairam, T., Mittal, A., Paul, S., Rao, V. J., Chittora, H., Kashyap, D. K., Palakodeti, D., Thangaraj, K., Shenthar, J., Koranchery, R., Rajendran, R., Alireza, H., Mohanan, K. S., Rathinavel, A., Dhandapany, P. S. Tags: Novel disease loci Source Type: research