Coats Plus Syndrome is a devastating disease

Coats Plus Syndrome is a life-shortening disease, which stems from the mutation of either the CTC1, STN1 or TEN1 gene which play a crucial role in the maintenance of telomeres; the protective caps at the ends of chromosomes. The result of the telomere dysfunction has a devastating effect on the patient, with symptoms that include:

  • Blindness, 
  • Development delays,
  • Brain abnormalities (calcifications & cysts),
  • Leukodystrophy (cognitive decline),
  • Gastrointestinal complications,
  • Brittle and fractured bones, and
  • Bone marrow failure.

The genetic mutation causes cellular instability throughout the body which manifests with several devastating symptoms. The pathology is explained further here:

Part one:

Part two:

How Coats Plus is inherited

Every person has two copies of each gene, one inherited from the mother and one inherited from the father. Coats Plus is caused by a mutation of either the CTC1, STN1 or TEN1 gene. A person with Coats Plus Syndrome has inherited both mutated copies. One from the father and one from the mother. Both parents of the Coats Plus patient carry one copy of the mutated gene and one copy without the mutation. 

If both parents carry one copy of the mutated gene, then there is a 25% chance that the child will have Coats Plus Syndrome. There is a 50% chance that the child will carry one copy of the mutated gene (like the parents). Someone that carries one copy will not have any symptoms. There is a 25% chance that the child will not have any copy of the mutated gene.

Common Questions

We’re here to answer your questions about Coats Plus Syndrome

Telomeres disease refers to a group of disorders caused by malfunctioning telomeres, which protect our chromosomes. These disorders can lead to rapid aging and severe health problems, highlighting the importance of ongoing research. Coats Plus is a Telomeres disease.

You can support our efforts by donating to our foundation. Every contribution helps fund research that could lead to breakthroughs in treatments for Coats Plus disease.

We organize various events throughout the year, including a fundraising golf tournament, 5k run and gala. We also organize awareness campaigns and zoom meetings for the families.

For more information, check our website’s Family resources section or reach out via our contact page. We’re here to help and provide as much information as possible.