Oculodentodigital dysplasia

What causes oculodentodigital dysplasia?

Oculodentodigital dysplasia is caused by changes (mutations) in the GJA1 gene. This gene provides instructions to the body to make a protein that helps to form gap junctions. Gap junctions allow for communication between cells of the body. When there is a mutation in GJA1 , the body does not form gap junctions correctly, and the communication between cells does not work well. This means that cells cannot grow as they are supposed to, and in some cases cells are not able to undergo changes to be able to accomplish specific functions. This lack of communication between cells causes the symptoms that are seen in individuals with oculodentodigital dysplasia.

Last updated on 05-01-20

How is oculodentodigital dysplasia diagnosed?

A diagnosis of oculodentodigital dysplasia is based on a clinical examination that causes a doctor to suspect the condition. Molecular genetic testing which analyzes the GJA1 gene to search for mutations is then used to confirm the diagnosis.

Last updated on 05-01-20

How is oculodentodigital dysplasia inherited?

In some cases, oculodentodigital dysplasia is inherited from a parent in an autosomal dominant manner. This means that a parent with a change in the GJA1 gene passes this change on to his or her child. We inherit one copy of every gene from our mother, and the other copy from our father. If one copy from either parent has a change that causes the gene not to work properly, an individual may show symptoms of oculodentodigital dysplasia.

In other cases, a person with oculodentodigital dysplasia is born to two people who are not affected by the condition. This could occur for one of two reasons. First, one of the parents of the affected individual may have the changed gene, but does not show any symptoms of the condition. This is a situation called reduced penetrance, which occurs when a mutated gene does not cause symptoms in every individual who has the gene. Another reason that a person affected by oculodentodigital dysplasia might be the only person in his or her family to be affected by the condition is because it might be occurring de novo in that individual. This means that the mutation occurred for the first time in the affected person, and that neither of the parents have the same change in the gene.

In a few very rare cases, oculodentodigital dysplasia has been inherited in an autosomal recessive manner. This means that an individual needs two mutations in the GJA1 gene to have symptoms of the conditions. People with only one mutation in the GJA1 gene are known as carriers and do not have symptoms of the condition.

Last updated on 05-01-20

How might oculodentodigital dysplasia be treated?

After a person is diagnosed with oculodentodigital dysplasia, there are a number of steps that can be taken in order to monitor other symptoms that may develop or to improve symptoms that are already occurring. For example, surgery may be recommended to correct syndactyly of the fingers or to remove bony growths. Possible treatments for conditions of the eye include wearing a patch over an eye that has correctly working muscles in order to strengthen the muscles of the other eye. A medication called oculinum (Botox) may also be injected around the eyes in older patients to correct strabismus. Your doctor may recommend frequent eye exams to check for glaucoma and vision loss.

Treatment to correct dental findings may include placing crowns on the teeth. Frequent dental visits to watch for changes are also recommended. Finally, your doctor may also recommend neurological and hearing exams, as these issues are more common in people affected by oculodentodigital dysplasia.

Last updated on 05-01-20

Name: National Foundation for Ectodermal Dysplasias 6 Executive Drive Suite 2
Fairview Heights, IL, 62258-1360, United States
Phone: +1-618-566-2020 Fax : +1-618-566-4718 Email: info@nfed.org Url: https://www.nfed.org/
Name: The Ectodermal Dysplasia Society Unit 1 Maida Vale Business Centre Leckhampton
Cheltenham Gloucestershire GL53 7ER
United Kingdom
Phone: +44 (0) 1242 261332 Email: info@edsociety.co.uk Url: https://edsociety.co.uk/
Name: Alex The Leukodystrophy Charity Alex TLC 45 Peckham High Street
London, SE15 5EB, United Kingdom
Phone: 020 7701 4388 Email: info@alextlc.org Url: https://www.alextlc.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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