Cohen Syndrome Overview
Learn About Cohen Syndrome
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.
Mutations in the VPS13B gene (also called the COH1 gene) cause Cohen syndrome. The protein produced from this gene is a part of the Golgi apparatus, which is a cell structure in which newly produced proteins are modified so they can carry out their functions. In particular, the VPS13B protein is involved in a modification called glycosylation, which is the attachment of sugar molecules to proteins. The VPS13B protein also appears to be involved in the sorting and transporting of proteins inside the cell. This protein is thought to be involved in normal growth and development of nerve cells (neurons) and fat cells (adipocytes), and may play a role in the storage and distribution of fats in the body.
The exact incidence of Cohen syndrome is unknown. It has been diagnosed in fewer than 1,000 people worldwide. More cases are likely undiagnosed.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Laurence Faivre practices in Dijon, France. Mr. Faivre is rated as an Elite expert by MediFind in the treatment of Cohen Syndrome. His top areas of expertise are Cohen Syndrome, Achalasia Microcephaly Syndrome, Microcephaly, Hypotonia, and Orchiectomy.
Christel Thauvin-Robinet practices in Dijon, France. Ms. Thauvin-Robinet is rated as an Elite expert by MediFind in the treatment of Cohen Syndrome. Her top areas of expertise are Cohen Syndrome, Oral-Facial-Digital Syndrome, Microcephaly, and Achalasia Microcephaly Syndrome.
Laurence Duplomb practices in Dijon, France. Mr. Duplomb is rated as an Elite expert by MediFind in the treatment of Cohen Syndrome. His top areas of expertise are Cohen Syndrome, Achalasia Microcephaly Syndrome, Microcephaly, and Hypotonia.
Published Date: June 01, 2017
Published By: National Institutes of Health