A new technology to identify pathological variants of the titin gene

Titinopathies are neuromuscular diseases recently described. Their wide clinical heterogeneity combined with the very large size of the TTN gene is at the origin of many diagnostic issues. Members of the Titine France Consortium report an important technological advance in the field:

• high-throughput sequencing, known as third generation sequencing, can now read very long DNAmacromolécule complexe, l’ADN est le support de l’hérédité (gènes). C’est le constituant des chromosomes. L’ADN est organisé en double hélice (deux brins complémentaires) et constitué de nucléotides de quatre types : adénine, guanine, cytosine et thymine. sequences;
• as a result, it is particularly well suited to the search for pathological variants in highly repeated areas of the TTN gene, particularly those corresponding to band I of the sarcomere;
• several complex diagnostic situations, including prenatal diagnosis of titinopathy, have been solved.

Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains. Perrin A, Van Goethem C, Thèze C et al. J Mol Diagn. 2022 Jul;24(7):719-726.