This website provides information on patients with mutations in the LRP2 gene, including clinical data, molecular data, management and research options. Mutations in the LRP2 gene are the cause of Donnai-Barrow syndrome (DBS).
The syndrome caused by mutations in the LRP2 gene is a multisystem disorder characterized by typical craniofacial features, high-grade myopia, sensorineural hearing loss, agenesis of the corpus callosum (ACC) and low-molecular-weight proteinuria (LMWP). A variety of birth defects, such as congenital diaphragmatic hernia (CDH) and/or omphalocele, can be present. Mild developmental delay is possible. Individuals with mutations in the LRP2 gene demonstrate considerable phenotypic variability.
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 LRP2 gene.
Barbara R. Pober, MD, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA, firstname.lastname@example.org
Mauro Longoni, MD, Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA, email@example.com