Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity
oleh: Andreia Fiúza Ribeiro, Ana Laura Fitas, Marcela Oliveira Pires, Paula Matoso, Dário Ligeiro, Daniel Sobral, Carlos Penha-Gonçalves, Jocelyne Demengeot, Íris Caramalho, Catarina Limbert
| Format: | Article |
|---|---|
| Diterbitkan: | Hindawi Limited 2024-01-01 |
Deskripsi
Conclusions: WES found potentially deleterious rare variants in MODY genes in 8.1% of EOT1D, occurring in the context of a T1D genetic background. Such genetic variants may contribute to disease precipitation by a β-cell dysfunction mechanism. This supports the concept of different endotypes of T1D, and WES at T1D onset may be a prerequisite for the implementation of precision therapies in children with autoimmune diabetes.