Learn About Branchio-Oculo-Facial Syndrome (BOFS)

What is the definition of Branchio-Oculo-Facial Syndrome (BOFS)?

Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features.

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What are the causes of Branchio-Oculo-Facial Syndrome (BOFS)?

Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2α regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck.

How prevalent is Branchio-Oculo-Facial Syndrome (BOFS)?

Branchio-oculo-facial syndrome is a rare condition, although the prevalence is unknown.

Is Branchio-Oculo-Facial Syndrome (BOFS) an inherited disorder?

Branchio-oculo-facial syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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Who are the sources who wrote this article ?

Published Date: September 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Branchio-Oculo-Facial Syndrome (BOFS)?
Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Summary: Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family.
Summary: Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family.
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Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome.
Summary: Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome.