Branchiootorenal spectrum disorder is a group of rare autosomal dominant conditions. Read more here.
Diagnosis and treatment Branchiootorenal spectrum disorder is a group of rare autosomal dominant conditions. It is characterized by malformations of the outer, middle, and inner ear associated with hearing impairment, branchial fistulae, and renal malformations.
The aberrant development of the second branchial arch in persons with BORSD can lead to branchial cleft cysts, which are neck lumps. Fistulae are anomalous holes or pits in the side of the neck, right above the collarbone, in some affected people. Some patients with the condition have tiny holes in their skin or extra tissue in front of their ears. Preauricular pits and preauricular tags are the terms for these structures.
Genetics BORSD has been linked to over 200 variations in the EYA1 gene, including nonsense, missense, splice site, minor deletions, and insertions. Large deletions of one or more exons, the complete gene, or chromosomal rearrangements involving the EYA1 gene are observed in about 20% of BORSD patients. There are only a few examples of BORSD caused by SIX1 gene mutations that have been published. Most variations alter the homeodomain region, which is required for specific Six1-DNA binding.
The EYA1 protein regulates the activity of genes involved in many stages of embryonic development by interacting with numerous other proteins, including SIX1 and SIX5. Many organs and tissues, including the second branchial arch, ears, and kidneys, are thought to require these protein interactions for optimal development.
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