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 clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
EYA1 | Branchiootic Syndrome, | AD | 100 | 197 of 199 |
SIX1 | Branchiootic | AD | 73 | 20 of 20 |
SIX5 | Branchiootorenal | AD | 93.16 | 11 of 11 |
TFAP2A | Branchiooculofacial | AD | 98.61 | 37 of 37 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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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
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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
