Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

We have investigated a distinct disorder with progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. In six affected individuals from four families, we found one of two recurrent variants in discoidin domain receptor tyrosine kinase 2 (DDR2): c.1829T>C (p.Leu610Pro) or c.2219A>G (p.Tyr740Cys). DDR2 encodes a collagen-responsive receptor tyrosine kinase that regulates connective-tissue formation.

Source: The American Journal of Human Genetics - November 15, 2018 Category: Genetics & Stem Cells Authors: Linda Xu, Hanne Jensen, Jennifer J. Johnston, Emilio Di Maria, Katja Kloth, Ileana Cristea, Julie C. Sapp, Thomas N. Darling, Laryssa A. Huryn, Lisbeth Tranebj ærg, Elisa Cinotti, Christian Kubisch, Eyvind Rødahl, Ove Bruland, Leslie G. Biesecker, Gunna Tags: Report Source Type: research