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

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

doi:doi/10.1016/j.gim.2025.101649

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Article révisé par les pairs

Résumé :

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 for unsolved rare disease cases.

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