This website provides information on patients with mutations in the COG4 gene, including clinical data, molecular data, management and research options.

There are two distinct syndromes caused by mutations in the COG4 gene. The first is a congenital disorder of glycosylation (CDG), a multisystem disorder characterized by seizures, hypotonia, intellectual disability, microcephaly, elevated transaminases, and, in one case, recurrent infections. The second phenotype is called Saul-Wilson syndrome, and is characterized from a clinical standpoint by profound short stature if prenatal onset, clubfoot, telebrachydactyly, progeroid features in the neonatal period, enlarged anterior fontanel, recurrent ear infections, hearing loss (both conductive and/or sensorineural) and early speech and motor delays that improve over time. Cataracts occur during childhood, while retinal pigmentary changes can be detected early on, but are more prominent in older individuals. From a laboratory standpoint, Saul-Wilson syndrome is associated with neutropenia and elevated transaminases, while from a radiographic standpoint it’s associated with overtubulation of the long bones, metaphyseal flaring of long bones, odontoid hypoplasia, T12/L1 hypoplasia, irregularities of the vertebral bodies, cone-shaped epiphyses of the phalanges, and pseudoepiphyses of the proximal metacarpals.

Not all individuals with a mutation in the COG4 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 of patients with mutations in the COG4 gene.

Carlos R. Ferreira, MD, Children’s National Health System, Washington, DC, ferreiracr@mail.nih.gov