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

Pratul Kumar JainShashank JayappaThiagarajan SairamAnupam MittalSayan PaulVinay J RaoHarshil ChittoraDeepak K KashyapDasaradhi PalakodetiKumarasamy ThangarajJayaprakash ShentharRakesh KorancheryRanjith RajendranHaghighi AlirezaKurukkanparampil Sreedharan MohananAndiappan RathinavelPerundurai S Dhandapany

Published in: Journal of medical genetics (2021)

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.

Keyphrases

copy number
hypertrophic cardiomyopathy
left ventricular
genome wide
gene expression
heart failure
small molecule
protein protein
atrial fibrillation
genetic diversity