Branchiootic Syndrome

Common Name(s)

Branchiootic Syndrome

Individuals with the BO syndrome are affected by the same branchial and otic anomalies as those seen in individuals with the branchiootorenal syndrome (see BOR1, {113650}), but lack renal anomalies ({16:Vincent et al., 1997}). Although {12:Melnick et al. (1978)} maintained that the BO syndrome is distinct from the BOR syndrome because of the lack of renal anomalies and variable presence of deafness in the former, {3:Cremers and Fikkers-van Noord (1980)} suggested that the 2 syndromes represent a single entity. See {113600} for a discussion of branchial cleft anomalies, which may be related. Genetic Heterogeneity of Branchiootic Syndrome See also BOS2 ({120502}), which maps to chromosome 1, and BOS3 ({608389}), which maps to 14q23 and is caused by mutations in the SIX1 gene ({601205}).
 

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Condition Specific Organizations

Following organizations serve the condition "Branchiootic Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Branchiootic Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.
 

Author(s): J C Clarke, E M Honey, E Bekker, L C Snyman, R M Raymond, C Lord, P D Brophy

Journal: Clin. Genet.. 2006 Jul;70(1):63-7.

 

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the associations of hearing loss, branchial arch defects and renal anomalies. Branchiootic (BO) syndrome is a related disorder that presents without the highly variable characteristic renal anomalies ...

Last Updated: 3 Jul 2006

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The terms "Branchiootic Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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