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MeSH Review

Branchio-Oto-Renal Syndrome

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Disease relevance of Branchio-Oto-Renal Syndrome


High impact information on Branchio-Oto-Renal Syndrome


Biological context of Branchio-Oto-Renal Syndrome


Anatomical context of Branchio-Oto-Renal Syndrome


Gene context of Branchio-Oto-Renal Syndrome

  • Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1 [14].
  • Mutations in human EYA1 cause congenital Branchio-Oto-Renal (BOR) syndrome, while targeted inactivation of murine Eya1 impairs early developmental processes in multiple organs, including ear, kidney and skeletal system [15].
  • Interestingly, these Six1 defects are very similar to phenotypes caused by mutations of Eya 1, which are responsible for the BOR syndrome in humans [16].
  • Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome [17].
  • Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins [18].

Analytical, diagnostic and therapeutic context of Branchio-Oto-Renal Syndrome


  1. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Xu, P.X., Adams, J., Peters, H., Brown, M.C., Heaney, S., Maas, R. Nat. Genet. (1999) [Pubmed]
  2. Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Johnson, K.R., Cook, S.A., Erway, L.C., Matthews, A.N., Sanford, L.P., Paradies, N.E., Friedman, R.A. Hum. Mol. Genet. (1999) [Pubmed]
  3. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Rickard, S., Parker, M., van't Hoff, W., Barnicoat, A., Russell-Eggitt, I., Winter, R.M., Bitner-Glindzicz, M. Hum. Genet. (2001) [Pubmed]
  4. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome. Kalatzis, V., Sahly, I., El-Amraoui, A., Petit, C. Dev. Dyn. (1998) [Pubmed]
  5. Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome. Graham, G.E., Allanson, J.E. Am. J. Med. Genet. (1999) [Pubmed]
  6. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Ruf, R.G., Xu, P.X., Silvius, D., Otto, E.A., Beekmann, F., Muerb, U.T., Kumar, S., Neuhaus, T.J., Kemper, M.J., Raymond, R.M., Brophy, P.D., Berkman, J., Gattas, M., Hyland, V., Ruf, E.M., Schwartz, C., Chang, E.H., Smith, R.J., Stratakis, C.A., Weil, D., Petit, C., Hildebrandt, F. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  7. Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. Buller, C., Xu, X., Marquis, V., Schwanke, R., Xu, P.X. Hum. Mol. Genet. (2001) [Pubmed]
  8. A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene. Vincent, C., Kalatzis, V., Compain, S., Levilliers, J., Slim, R., Graia, F., Pereira, M.L., Nivelon, A., Croquette, M.F., Lacombe, D. Hum. Mol. Genet. (1994) [Pubmed]
  9. Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent. Mutsuddi, M., Chaffee, B., Cassidy, J., Silver, S.J., Tootle, T.L., Rebay, I. Genetics (2005) [Pubmed]
  10. The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome. Gu, J.Z., Lin, X., Wells, D.E. Genomics (1996) [Pubmed]
  11. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. Usami, S., Abe, S., Shinkawa, H., Deffenbacher, K., Kumar, S., Kimberling, W.J. J. Hum. Genet. (1999) [Pubmed]
  12. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Stinckens, C., Standaert, L., Casselman, J.W., Huygen, P.L., Kumar, S., Van de Wallen, J., Cremers, C.W. Int. J. Pediatr. Otorhinolaryngol. (2001) [Pubmed]
  13. Hemifacial microsomia and the branchio-oto-renal syndrome. Rollnick, B.R., Kaye, C.I. Journal of craniofacial genetics and developmental biology. Supplement. (1985) [Pubmed]
  14. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Levi-Acobas, F., Cruaud, C., Le Merrer, M., Mathieu, M., König, R., Vigneron, J., Weissenbach, J., Petit, C., Weil, D. Hum. Mol. Genet. (1997) [Pubmed]
  15. Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Xu, P.X., Zheng, W., Laclef, C., Maire, P., Maas, R.L., Peters, H., Xu, X. Development (2002) [Pubmed]
  16. Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. Laclef, C., Souil, E., Demignon, J., Maire, P. Mech. Dev. (2003) [Pubmed]
  17. Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. Lin, X., Wells, D.E., Kimberling, W.J., Kumar, S. Hum. Hered. (1999) [Pubmed]
  18. Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. Ozaki, H., Watanabe, Y., Ikeda, K., Kawakami, K. J. Hum. Genet. (2002) [Pubmed]
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