A focus on complex cases of autosomal dominant titinopathies

An international consortium of researchers coordinated by a team of geneticists from Montpellier and including researchers and clinicians from the Institute is reporting the clinical and biological data of patients diagnosed with primary titinopathy on the basis of more sophisticated investigations (including the RNA-seq technique):

  • 17 patients corresponding to eight families were included in the study,
  • Most had a distal myopathy phenotype,
  • all had pathological changes in the TTN gene that were highly unusual and very difficult to detect using conventional techniques,
  • the sequence variations identified (CNV for copy number variant) corresponded to six deletions, the vast majority of which shifted the reading frame.

These results are helping to raise awareness of these rare forms of titinopathy.


Titin copy number variations associated with dominant inherited phenotypes. Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D’Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. J Med Genet. 2023 Dec.