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 | |
 |
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. 
|
| 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).
|
| 3. |
Kumar S et al. (1998) Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.
|
| 4. |
Gu JZ et al. (1996) Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.
|
| 5. |
Kalatzis V et al. (1996) Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.
|
| 6. |
Cremers CW et al. (1981) Otological aspects of the earpit-deafness syndrome.
|
| 7. |
Melnick M et al. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
|
| 8. |
None (1966) Pits of the lip commissures in Caucasoid males.
|
| 9. |
Haan EA et al. (1989) Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
|
| 10. |
Marres HA et al. (1991) Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.
|
| 11. |
Spruijt L et al. (2006) Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
|
| 12. |
None (1962) Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness.
|
| 13. |
FOURMAN P et al. (1955) Hereditary deafness in family with ear-pits (fistula auris congenita).
|
| 14. |
Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.
|
| 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.
|
| 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.
|
| 17. |
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
|
| 18. |
None (1969) Familial hearing loss associated with branchial fistulas.
|
| 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.
|
| 20. |
Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
|
| 21. |
Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
|
| 22. |
Orphanet article Orphanet ID 52429
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
