Branchio-oto-renal syndrome

Definition:

Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases.

References:

[1]. B Dallapiccola, et al. Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. J Med Genet. 1995 Oct;32(10):816-8. [Content Brief]

[2]. Bethan E Hoskins, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 Apr;80(4):800-4. [Content Brief]

[3]. Kirsten Marie Sanggaard, et al. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007 Nov;15(11):1121-31. [Content Brief]

[4]. Rainer G Ruf, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. [Content Brief]

[5]. S Rickard, et al. 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. Hum Genet. 2001 May;108(5):398-403. [Content Brief]

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