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 DNA 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.
