H00453 | |
H number | H00453 |
Name | Branchio-oto-renal syndrome; BOR syndrome |
Description | 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. |
Category | Congenital malformation |
Network | - |
Gene | (BOR1/BO1) EYA1 [HSA:2138] [KO:K15616] (BOR2) SIX5 [HSA:147912] [KO:K19474] (BO3) SIX1 [HSA:6495] [KO:K15614] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87 MeSH: D019280 OMIM: 113650 602588 610896 608389 |
Reference | PMID:8558563 AUTHORS Dallapiccola B, Mingarelli R TITLE Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome. JOURNAL J Med Genet 32:816-8 (1995) DOI:10.1136/jmg.32.10.816 PMID:11409867 AUTHORS Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M TITLE 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. JOURNAL Hum Genet 108:398-403 (2001) DOI:10.1007/s004390100495 PMID:17637804 (EYA1, SIX1) AUTHORS Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L TITLE Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. JOURNAL Eur J Hum Genet 15:1121-31 (2007) DOI:10.1038/sj.ejhg.5201900 PMID:17357085 (SIX5) AUTHORS 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 TITLE Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. JOURNAL Am J Hum Genet 80:800-4 (2007) DOI:10.1086/513322 PMID:15141091 (SIX1) AUTHORS 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 TITLE SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. JOURNAL Proc Natl Acad Sci U S A 101:8090-5 (2004) DOI:10.1073/pnas.0308475101 |