Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The existance odf a separate entity Branchiootic syndrome (BOS) separate from Branchiootorenal syndrome (BOR) is still disputed because type 1 of both disorders is caused by the same gene. It seems however that other types deviate. Three types of BOS are known so far. Type 2 is not yet well characterized and therefore not eligible for diagnostic purposes.
| Deafness | |
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Branchiootic syndrome deafness is of a mixed (conductive and sensorineural) type because of malformations (atresia to stenosis) of the external auditory canal and nderdeveloped cochlea and semicircular canals, respectively. |
| 1. |
Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. 
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| 2. |
Stratakis CA et al. (1998) Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
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| 3. |
Kumar S et al. (1998) Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.
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None (1962) Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.
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| 13. |
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| 14. |
Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.
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| 15. |
Kumar S et al. (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
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| 16. |
Azuma N et al. (2000) Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.
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| 17. |
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
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| 18. |
None (1969) Familial hearing loss associated with branchial fistulas.
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| 19. |
Sanggaard KM et al. (2007) Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
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| 20. |
Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
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| 21. |
Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
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| 22. |
Orphanet article Orphanet ID 52429
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