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Yang, C. Branchiootorenal/Branchiootic Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5028 (accessed on 22 September 2026).
Yang C. Branchiootorenal/Branchiootic Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5028. Accessed September 22, 2026.
Yang, Catherine. "Branchiootorenal/Branchiootic Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5028 (accessed September 22, 2026).
Yang, C. (2020, December 24). Branchiootorenal/Branchiootic Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5028
Yang, Catherine. "Branchiootorenal/Branchiootic Syndrome." Encyclopedia. Web. 24 December, 2020.
Branchiootorenal/Branchiootic Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/branchiootorenal-branchiootic-syndrome

Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).

genetic conditions

References

  1. Brophy PD, Alasti F, Darbro BW, Clarke J, Nishimura C, Cobb B, Smith RJ, ManakJR. Genome-wide copy number variation analysis of a Branchio-oto-renal syndromecohort identifies a recombination hotspot and implicates new candidate genes. HumGenet. 2013 Dec;132(12):1339-50. doi: 10.1007/s00439-013-1338-8.
  2. Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ.Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypicconsequences. Hum Mutat. 2004 Jun;23(6):582-9.
  3. Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Transcription factorSIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet.2007 Apr;80(4):800-4.
  4. Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome.Am J Med Genet A. 2007 Jul 15;143A(14):1671-8. Review.
  5. Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, SmithRJ. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: arecurrent missense mutation associated with BOR. Hum Mutat. 2008 Apr;29(4):565.doi: 10.1002/humu.20714.
  6. Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D,Salomon R, Antignac C, Heidet L. Mutation screening of the EYA1, SIX1, and SIX5genes in a large cohort of patients harboring branchio-oto-renal syndrome callsinto question the pathogenic role of SIX5 mutations. Hum Mutat. 2011Feb;32(2):183-90. doi: 10.1002/humu.21402.
  7. Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ. Branchio-oto-renal syndrome (BOR):novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.
  8. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM,Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNAcomplexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5.
  9. Smith RJH. Branchiootorenal Spectrum Disorder. 1999 Mar 19 [updated 2018 Sep6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1380/
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Update Date: 24 Dec 2020
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