Zespół Cohena — opis przypadku klinicznego

Cohen’s syndrome is a rare genetic disorder inherited in an autosomal recessive manner. It is caused by a mutation in the VPS13B gene (also known as the COH1 gene), located on chromosome 8q22. The protein encoded by this gene is involved in the glycosylation process (the attachment of sugar molecules to proteins). This protein is thought to be crucial in the normal growth and development of nerve and fat cells. It may also play a role in the storage and distribution of fats in the body. Cohen’s syndrome manifests with a wide range of clinical symptoms. The most common are microcephaly, psychomotor retardation, ophthalmic disorders and neutropenia. The condition is most prevalent in the Finnish population and among the Amish.