Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Conclusion
Surprisingly, pathogenic variants in the TB5 domain of FBN1 can lead to two opposite phenotypes: GPHYSD/ACMICD and MFS, suggesting the existence of different pathogenic sequences with the involvement of tissue specificity. Further functional studies are ongoing to determine the precise role of this domain in the physiopathology of each disease.

Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Arnaud, P., Mougin, Z., Baujat, G., Drouin-Garraud, V., El Chehadeh, S., Gouya, L., Odent, S., Jondeau, G., Boileau, C., Hanna, N., Le Goff, C. Tags: Open access Diagnostics Source Type: research