Branchiooculofacial syndrome (BOFS)

What is Branchiooculofacial syndrome (BOFS)?

This rare disease is a genetic condition first identified in 1987.

The main features and symptoms of the syndrome affect the eyes, the skin, and other facial features.

The syndrome also affects the kidneys of affected individuals.

What gene changes cause Branchiooculofacial syndrome (BOFS)?

Mutations to the TFAP2A are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern but over half of all cases are the result of a de novo or random mutation.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Branchiooculofacial syndrome (BOFS)?

The main symptoms affecting the eyes are small or absent eyeballs which can cause issues with vision.
Coloboma, a hole in the eye, and early cataracts (a clouding of the eye) are other issues related to the syndrome. Blocked tear ducts are another common symptom.

Skin scarring, connected to issues with the development of the branchial arches while the fetus is in utero, is also a common feature of the syndrome. This scarring occurs mainly on the neck and can present as thick patches, overly hairy patches. They may also be very red and filled with blood vessels.

Other unique facial characteristics of the condition include widely-spaced eyes, a cleft or pseudo cleft lip, a high forehead, a broad nose and flat tip of the nose, and abnormalities with the development of the nails and teeth. Some individuals may also experience premature greying of the hair.

Individuals may also experience kidney abnormalities and problems, including the development of cysts.

How does someone get tested for Branchiooculofacial syndrome (BOFS)?

The initial testing for Branchiooculofacial syndrome (BOFS) can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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