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.
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.
|Congenital abnormalities of the kidney and urinary tract|
|Aplasia of lacrimal and salivary glands|
|Autosomal dominant Robinow syndrome 1|
|Autosomal recessive Robinow syndrome|
|Brain malformations with urinary tract defects|
|Branchiootic syndrome 1|
|Branchiootic syndrome 3|
|Congenital anomalies of kidney and urinary tract 1|
|Congenital anomalies of kidney and urinary tract 2|
|Congenital hypogonadotropic hypogonadism with anosmia 1|
|Congenital hypogonadotropic hypogonadism without anosmia 5|
|Renal cysts and diabetes (RCAD)|
|Renal dysplasia with hypopituitarism and diabetes|
|Renal tubular dysgenesis|
|Susceptibility to cystic renal dysplasia|
|Syndromic microphthalmia 6|
Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
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).
Kumar S et al. (1998) Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.
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.
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Melnick M et al. (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.
None (1966) Pits of the lip commissures in Caucasoid males.
Haan EA et al. (1989) Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
Marres HA et al. (1991) Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.
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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.
FOURMAN P et al. (1955) Hereditary deafness in family with ear-pits (fistula auris congenita).
Fitch N et al. () The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.
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.
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.
Vincent C et al. () BOR and BO syndromes are allelic defects of EYA1.
None (1969) Familial hearing loss associated with branchial fistulas.
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.
Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Orphanet articleOrphanet ID 52429