The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

doi:10.1016/j.gim.2025.101649

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Article

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026

Di Feo Maria Francesca, Paramonov Ida, Matalonga Borrel Leslie, Töpf Ana, Hoischen Alexander, Beltran Sergi, Graessner Holm, Vissers Lisenka, de Voer Richarda, van Gijn Marielle, Balestrini Simona, Lerche Holger, Lesca Gaëtan, Gayathri Swethaa Natraj, Ellwanger Kornelia, Cossee Mireille, Perrin Aurelien, Sarkozy Anna, Bonne Gisele, Verdonschot Job A J, Demidov German, Laurie Steven, Johari Mridul, Hackman Peter, Savarese Marco, Udd Bjarne

Abstract excerpt

PURPOSE: Titin, the largest protein in the human body, has been associated with several disease phenotypes caused by variants in the TTN gene. With around 20% of the population carrying a rare TTN variant and over 60 million genomes expected to have been sequenced worldwide by 2025, interpreting these findings presents major challenges. This study analyzed TTN variants in the Solve-RD cohort, the European network...

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PMID: 41277541
DOI: 10.1016/j.gim.2025.101649

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