Branchiootorenal Syndrome (BOR) is a rare autosomal dominant disorder that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. It is characterized by branchial arch anomalies, hearing loss and renal anomalies ranging from hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. It is a clinically heterogeneous disorder with variability in the presence, severity and type of branchial arch, otologic, audiologic and renal abnormality.
The Igenomix Branchiootorenal Syndrome Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved
- The Igenomix Branchiootorenal Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Preauricular pits
- Auricular malformations
- Renal anomalies
- Branchial cleft cyst and fistula
- Long, narrow face
- Cleft palate
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form surgical care of anatomic defects, surveillance for hearing impairment and renal function and prevention of complications such as infections.
- Risk assessment and genetic counselling of asymptomatic family members due to the autosomal dominant mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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Nasir, S. B., Ladan, S. J., Bemu, A. N., & Jibrin, J. (2018). Branchiootorenal syndrome: A case report. The Nigerian postgraduate medical journal, 25(1), 60–62. https://doi.org/10.4103/npmj.npmj_203_17
Ječmenica, J., & Bajec-Opančina, A. (2015). Branchiootorenal and branchiooculofacial syndrome. The Journal of craniofacial surgery, 26(1), e30–e31. https://doi.org/10.1097/SCS.0000000000001268
Smith, R. (1999). Branchiootorenal Spectrum Disorder. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.
Kochhar, A., Fischer, S. M., Kimberling, W. J., & Smith, R. J. (2007). Branchio-oto-renal syndrome. American journal of medical genetics. Part A, 143A(14), 1671–1678. https://doi.org/10.1002/ajmg.a.31561
Brophy, P., Alasti, F., Darbro, B., Clarke, J., Nishimura, C., & Cobb, B. et al. (2013). Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Human Genetics, 132(12), 1339-1350. doi: 10.1007/s00439-013-1338-8