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American Journal of Medical Genetics.... Jul 2007Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of... (Review)
Review
Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. Three loci known to be associated with the BOR phenotype have been identified and two genes that act in a regulatory network have been cloned, EYA1 and SIX1. EYA1 and SIX1 are homologous to genes involved in Drosophila eye development, eyes absent gene (eya), and sine oculis (so), respectively. EYA1, a transcriptional co-activator has a conserved, 271-amino acid, C-terminal known as the Eya Domain (ED). SIX1 has two highly conserved domains; a homeodomain (HD) and a specific Six-domain (SD) whose products function as transcription factors with specific DNA-binding activity that are crucial for protein-protein interaction. To determine the molecular basis for the organ defects that occur in BOR syndrome, many studies have focused on the effects of mutations to EYA and effects of mutations of the EYA-SIX regulatory system. However, over 60% of BOR syndrome patients do not have known mutations in EYA1 and relatively little is known about mutations to SIX1. Further evaluation of SIX1 and its related target genes may provide a better understanding of the pathophysiology of BOR syndrome and offer greater clues to the disease mechanisms.
Topics: Branchio-Oto-Renal Syndrome; Genetic Predisposition to Disease; Homeodomain Proteins; Humans; Intracellular Signaling Peptides and Proteins; Mutation; Nuclear Proteins; Protein Tyrosine Phosphatases
PubMed: 17238186
DOI: 10.1002/ajmg.a.31561 -
Journal of Nephrology 2003Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or... (Review)
Review
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss and renal anomalies. Mutations in the EYA1 gene, a human homologue of the drosophila "eyes absent" gene, are identified as the cause of BOR syndrome.
Topics: Branchio-Oto-Renal Syndrome; Female; Genetic Predisposition to Disease; Humans; Incidence; Male; Mutation; Pedigree; Phenotype; Prognosis; Spain; Trans-Activators
PubMed: 14696767
DOI: No ID Found -
Journal of Communication Disorders 1998Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The branchial manifestations usually are... (Review)
Review
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. The branchial manifestations usually are inconsequential, however the hearing impairment and renal malformations can be significant. The disease is caused by mutations in the EYA1 gene.
Topics: Branchio-Oto-Renal Syndrome; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 8; Deafness; Genes, Dominant; Humans; Intracellular Signaling Peptides and Proteins; Mutation; Nuclear Proteins; Protein Tyrosine Phosphatases; Trans-Activators
PubMed: 9777487
DOI: 10.1016/s0021-9924(98)00013-6 -
Advances in Oto-rhino-laryngology 2000
Review
Topics: Branchio-Oto-Renal Syndrome; Ear; Humans; Intracellular Signaling Peptides and Proteins; Mutation; Nuclear Proteins; Protein Tyrosine Phosphatases; Trans-Activators
PubMed: 10868212
DOI: 10.1159/000059081 -
Journal of the College of Physicians... May 2014The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and renal anomalies constitutes the branchio-oto-renal (BOR) syndrome...
The association of branchial arch anomalies (branchial cysts, branchial fistulas), hearing loss and renal anomalies constitutes the branchio-oto-renal (BOR) syndrome also known as Melnick Fraser syndrome. We present a case of this rare disorder in a girl child who presented with profound deafness, preauricular pits, branchial sinuses and renal hypoplasia.
Topics: Acoustic Impedance Tests; Audiometry; Branchial Region; Branchio-Oto-Renal Syndrome; Child; Ear, External; Female; Hearing Loss; Humans; Kidney; Nasolacrimal Duct; Otitis Media with Effusion; Ultrasonography; Urography
PubMed: 24848399
DOI: No ID Found -
Pediatrics International : Official... Jun 2014Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The prevalence of BOR... (Review)
Review
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome.
Topics: Branchio-Oto-Renal Syndrome; Homeodomain Proteins; Humans; Intracellular Signaling Peptides and Proteins; Japan; Nuclear Proteins; Protein Tyrosine Phosphatases
PubMed: 24730701
DOI: 10.1111/ped.12357 -
AJNR. American Journal of Neuroradiology Feb 2022Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a...
BACKGROUND AND PURPOSE
Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a highly characteristic marker for branchio-oto-renal syndrome. Our goals were to examine the prevalence of this finding in a branchio-oto-renal syndrome cohort and analyze genetic-phenotypic associations not previously established.
MATERIALS AND METHODS
This multicenter retrospective study included 38 ears in 19 unrelated individuals with clinically diagnosed branchio-oto-renal syndrome and confirmed mutations in the or genes. Two blinded neuroradiologists independently reviewed and documented temporal bone imaging findings in 13 categories for each ear. Imaging phenotypes were correlated with genotypes.
RESULTS
There was excellent interrater agreement for all 13 phenotypic categories (κ ≥ 0.80). Of these, 9 categories showed statistically significant differences between patients with -branchio-oto-renal syndrome and -branchio-oto-renal syndrome. Cochlear offset was present in 100% of patients with -branchio-oto-renal syndrome, but in only 1 ear (12.5%) among patients with -branchio-oto-renal syndrome. A short thorny appearance of the cochlear apical turn was observed in most patients with -branchio-oto-renal syndrome.
CONCLUSIONS
An offset cochlea is associated with the -branchio-oto-renal syndrome genotype. The -branchio-oto-renal syndrome genotype is associated with a different cochlear phenotype that almost always is without offset and has a short thorny tip as the apical turn. Therefore, cochlear offset is not a characteristic marker for all patients with branchio-oto-renal syndrome. The lack of a cochlear offset in a patient with clinically suspected branchio-oto-renal syndrome does not exclude the diagnosis and, in fact, may be predictive of the genotype.
Topics: Branchio-Oto-Renal Syndrome; Cochlea; Genetic Association Studies; Homeodomain Proteins; Humans; Intracellular Signaling Peptides and Proteins; Nuclear Proteins; Protein Tyrosine Phosphatases; Retrospective Studies
PubMed: 35058298
DOI: 10.3174/ajnr.A7396 -
The Journal of the Association of... Nov 2008Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along...
Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed agenesis of the left kidney.
Topics: Abnormalities, Multiple; Adult; Branchio-Oto-Renal Syndrome; Branchioma; Deafness; Diagnosis, Differential; Ear; Humans; Kidney; Male
PubMed: 19263692
DOI: No ID Found -
Archives of Otolaryngology--head & Neck... Aug 1995Branchio-oto-renal (BOR) syndrome is a rare, autosomal dominant genetic disorder involving branchial cleft and renal anomalies, hearing loss, and other otologic...
Branchio-oto-renal (BOR) syndrome is a rare, autosomal dominant genetic disorder involving branchial cleft and renal anomalies, hearing loss, and other otologic manifestations. We report a case of a family with three generations of branchial cleft anomalies and otologic anomalies with hearing loss. A review of the literature, classic clinical presentations, associated findings, and the differential diagnosis of BOR syndrome is presented. Due to BOR syndrome's variability of both penetrance and expression and a high incidence of renal the practicing otolaryngologist should consider BOR syndrome when evaluating hearing loss and branchial cleft remnants in any child.
Topics: Abnormalities, Multiple; Audiometry; Branchial Region; Female; Hearing Disorders; Humans; Infant; Kidney; Pedigree; Syndrome
PubMed: 7619422
DOI: 10.1001/archotol.1995.01890080088017 -
Otology & Neurotology : Official... Sep 2022
Topics: Branchio-Oto-Renal Syndrome; Ear, Inner; Humans; Kidney; Pedigree
PubMed: 35970162
DOI: 10.1097/MAO.0000000000003602