Pathogenic variants in the CEP290 gene can cause one of 5 different conditions including Bardet-Biedl syndrome, Joubert Syndrome, Leber congenital amaurosis, Meckel syndrome, and Senior-Loken syndrome.

  1. Bardet-Biedl syndrome is a condition that can cause vision problems leading to blindness, weight gain, extra fingers or toes, learning difficulties, kidney problems, and delayed motor skills. Affected males often have lower sex hormone levels and may be infertile. 
  2. Joubert syndrome affects many parts of the body, including the brain, causing low muscle tone, trouble with coordination, abnormal breathing in infancy, unusual eye movements, and intellectual disabilities. People with Jourbert syndrome have distinctive facial features such as a broad forehead, arched eyebrows, droopy eyelids, widely spaced eyes, low-set ears, and a triangle-set mouth.
  3. Leber congenital amaurosis is an eye disorder that mostly affects the retina. People with this disorder have vision problems starting soon after birth and may have light sensitivity, uncontrolled eye movements, and farsightedness. Treatment includes fixing farsightedness, using low vision aids, and a new gene therapy.
  4. Meckel Syndrome has many signs, including enlarged kidneys with fluid-filled cysts, a protrusion of the brain through a hole in the back of the skull, the presence of extra fingers and toes, fibrosis in the liver, incomplete closure of the tube that creates the spinal cord and brain, and incomplete development of many organs. Most people with this syndrome die at or shortly after birth.
  5. Senior-Loken Syndrome is characterized by two main traits: inflammation and scarring that affects kidney function, and congenital amaurosis. This syndrome leads to eventual kidney failure in childhood or adolescence. 

All of these conditions are caused by pathogenic (disease-causing) variants in the CEP290 gene and exhibit autosomal recessive inheritance, meaning both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers do not typically show any signs or symptoms of the condition. 

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Posted August 2024