This website provides information on patients with mutations in the COG6 (Conserved Oligomeric Golgi Complex 6) gene, including clinical data, molecular data, and management and research options.
The syndrome caused by mutations in the COG6 gene is a multisystem disorder, belonging to congenital disorders of glycosylation (CDG). CDG are an expanding group of metabolic disorders that result from abnormal protein glycosylation.
Glycoproteins play an important role in many biological processes such as growth, differentiation, organ development, signal transduction and immunologic defense. A special subgroup of CDG type II comprises defects in the Conserved Oligomeric Golgi Complex (COG). Few patients with COG complex defects have been reported and usually these patients present with multi-systemic disease and involvement of central nervous system. Among the defects of the COG complex, COG6-CDG is a very rare disease. The most common clinical features of COG6-CDG are growth retardation, microcephaly, developmental disability, liver or gastrointestinal disease, hepatosplenomegaly, heart defects, disorder of sexual differentiation, recurrent infections, hypohidrosis/hyperthermia and hyperkeratosis. Early lethality is also common.
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 COG6 gene.
Licia Lugli, MD, Neonatology Unit, University Hospital of Modenam, Italy, email@example.com; firstname.lastname@example.org
Alberto Berardi, Professor, Neonatology Unit, University Hospital of Modena, Italy, email@example.com