Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report

Next-generation sequencing has resulted in an explosion of rare de novo TTN variants. The clinical interpretation of these de novo variants in patients with recessive titinopathy is very difficult. Here, we provided a useful way to identify compound heterozygous mutations with a de novo one.

Automated summary

The emergence of rare de novo TTN variants due to next-generation sequencing poses challenges in clinical interpretation, especially in patients with recessive titinopathy. This study offers a useful approach to identify compound heterozygous mutations with a de novo variant.