What gene is affected by dyskeratosis congenita?

In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres , which are found at the ends of chromosomes.

Is dyskeratosis congenita inherited?

In the majority of cases dyskeratosis congenita is inherited. The pattern of inheritance may be X-linked (Zinsser-Cole-Engleman syndrome), autosomal dominant (dyskeratosis congenita, Scoggins type) or autosomal recessive.

What is the cause of dyskeratosis congenita?

Dyskeratosis congenita can be caused by changes (mutations) in the genes. About 50% of the people who have dyskeratosis congenita have changes in the DKC1, TERT, TERC or TINF2 genes. In rare instances, other genes can cause the condition. These genes provide the body with instructions on how to make telomeres.

What are the symptoms of dyskeratosis congenita?

What are the symptoms of dyskeratosis congenita?

  • abnormalities of the skin, such as unusual pigmentation with a net-like pattern on the neck and upper chest.
  • defects in fingernails and toenails, including cracking, splitting, and underdevelopment or distortion.
  • oral lesions that appear as white patches in the mouth.

What organelle is affected by dyskeratosis congenita?

Dyskeratosis congenita is a disorder of poor telomere maintenance mainly due to a number of gene mutations that give rise to abnormal ribosome function, termed ribosomopathy. Specifically, the disease is related to one or more mutations which directly or indirectly affect the vertebrate telomerase RNA component (TERC).

What does Dyskeratotic mean?

Medical Definition of dyskeratosis : faulty development of the epidermis with abnormal keratinization.

What is the life expectancy of someone with dyskeratosis congenita?

Life expectancy ranges from infancy to well into the 7th decade. Up to 40% of patients will have BMF by the age of 40. Major causes of morbidity include BMF, cancer and pulmonary complications.

Is there a cure for dyskeratosis congenita?

The only long-term, curative treatment option for bone marrow failure in dyskeratosis congenita (DKC) patients is hematopoietic stem cell transplantation (SCT), although long-term outcomes remain poor, with an estimated 10-year survival rate of 23%.

What is DKC disease?

A rare, inherited disorder that can affect many parts of the body, especially the nails, skin, and mouth. It is marked by abnormally shaped fingernails and toenails that may grow poorly; changes in skin color, especially on the neck and chest; and white patches inside the mouth.

What does dyskeratosis mean?

How do you treat dyskeratosis congenita?

Medical Care. The only long-term, curative treatment option for bone marrow failure in dyskeratosis congenita (DKC) patients is hematopoietic stem cell transplantation (SCT), although long-term outcomes remain poor, with an estimated 10-year survival rate of 23%.

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