This website provides information on patients with mutations in the DPM2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the DPM2 gene is a multisystem disorder affecting dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit, characterized by cardiac abnormalities, developmental delay etc. Patients with DPM2 deficiency present with abnormal glycosylation, hence DPM2 deficiency is characterized as a congenital disorder of glycosylation (DPM2-CDG).
Not all individuals with pathogenic variants in the DPM2 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment for patients with pathogenic variants in the DPM2 gene.
Silvia Radenkovic, PhD, Mayo Clinic, Rochester, MN, USA, email@example.com
Eva Morava-Kozicz, MD, PhD, Mayo Clinic, Rochester, MN, USA, Moravafirstname.lastname@example.org