DDR2 variants associated with Warburg-Cinotti syndrome

Rare syndrome named Warburg-Cinotti was discovered in 2006 and recently its genetic basis have been uncovered using exome sequencing.

DDR2 gene, governing cell reactions to collagen molecules, is essential for proper fibroblast (cells synthethising collagen) function. Any alterations in a product of that gene may lead to disruptions of tissue development – as those observed in the disorder.

In addition to diagnostic approach, the study tested a possibility of treatment influencing DDR2 product. Dasatinib successfully restored some functions of fibroblast, suggesting a new therapy for Warburg-Cinotti patients.

More: “Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome”, L. Xu et al., 2018, doi:10.1016/j.ajhg.2018.10.013.