POLA1 VEODS

This website provides information on patients with mutations in the POLA1gene, including clinical data, molecular data, management and research options. This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the POLA1gene.

A number of hypomorphic mutations in the POLA1gene cause Van Esch–O’Driscoll syndrome (VEODS), a multisystem disorder characterized by intellectual disability, short stature, microcephaly, hypogonadism, and variable congenital anomalies affecting multiple organ systems.

Affected individuals may also present with developmental delay, endocrine abnormalities, behavioral features, and structural malformations.

Clinicians who identify a patient with a mutation in POLA1are invited to submit this information to the database.

Ezra Burstein, MD, PhD, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas, United States, Ezra.Burstein@UTSouthwestern.edu
Andrew Zinn, MD, PhD, McDermott Center for Human Growth and Development, UT Southwestern Medical Center, Dallas, Texas, United States, Andrew.Zinn@utsouthwestern.edu