KEGG DISEASE: Branchio-oto-renal syndrome

KEGG

DISEASE: Branchio-oto-renal syndrome

Entry

H00453                      Disease

Name

Branchio-oto-renal syndrome;
BOR syndrome

Subgroup

Branchio-otic 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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00453  Branchio-oto-renal syndrome

Gene

(BOR1/BO1) EYA1 [HSA:2138] [KO:K15616]
(BOR2) SIX5 [HSA:147912] [KO:K19474]
(BO3) SIX1 [HSA:6495] [KO:K15614]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

113650 602588 610896 608389

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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