Genetics and Aniridia

Genetic Changes

Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb ). The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Following birth, the PAX6 protein regulates several genes that likely contribute to the maintenance of different eye structures .

Mutations in the PAX6 gene result in the production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. A lack of functional PAX6 protein disrupts the formation of the eyes during embryonic development.

Source: GHR (NLM/NIH)1

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Back to: « Aniridia

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Inheritance Pattern

Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In approximately two-thirds of cases, an affected person inherits the mutation from one affected parent . The remaining one-third of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Source: GHR (NLM/NIH)2

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Learn more about the gene associated with aniridia

  • PAX6

Source: GHR (NLM/NIH)3

Inheritance of Aniridia

Genetic and familial features of the condition may include:4 Genetics of Aniridia:



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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aniridia
  2. ibid.
  3. ibid.
  4. Source: Human Phenotype Ontology

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