Congenital Conductive or Mixed Deafness, Preauricular Sinus, External Ear Anomaly, and Commissural Lip Pits: An Autosomal Dominant Inherited Syndrome

Marres, H.A.M.; Cremers, C.W.R.J.

doi:10.1177/000348949110001113

Cited by 26 publications

(20 citation statements)

References 9 publications

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“…The name branchio-oto syndrome, BOS1, (OMIM 602588) has been used to describe a similar combination to BOR syndrome with branchial anomalies, preauricular pits and hearing loss, without associated renal findings [Marres and Cremers, 1991;Kumar et al, 1998b;Stratakis et al, 1998]. …”

Section: Introductionmentioning

confidence: 99%

Branchio‐oto‐renal syndrome

Kochhar

Fischer

Kimberling

et al. 2007

American J of Med Genetics Pt A

136

107

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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.

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Section: Introductionmentioning

confidence: 99%

Branchio‐oto‐renal syndrome

Kochhar

Fischer

Kimberling

et al. 2007

American J of Med Genetics Pt A

136

107

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“…Thus, the absence of branchial fistulae, as observed in affected members of family 2, does not exclude the diagnosis of BOR syndrome. The name branchio-oto (BO) syndrome has been used to describe a similar combination of branchial and otic anomalies, without association of renal findings [13]. Whether BOR, BO, and other syndromes (branchio-oto-ureteral or BOU, branchio-oculo-facial or BOF, and branchio-renal or BR) are genetically related or not has been a matter of discussion [14].…”

Section: Discussionmentioning

confidence: 99%

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene

Rodríguez‐Soriano

Vallo

Bilbao

et al. 2001

Pediatric Nephrology

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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, have been identified as cause of the syndrome. We report here two families with BOR syndrome. In one family, with the complete phenotype, a novel splice site mutation in exon 15 (1599 +1 G to A) is described. No mutations in the EYA1 gene were found in a second family presenting with ear pits, deafness, and renal anomalies, but lacking branchial fistulae. These and other findings from the literature suggest the existence of genetic heterogeneity of the BOR, BO, and other related phenotypes, with two or more genes involved.

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“…Blood samples were drawn from members of a large multigeneration family with branchio-otic type syndrome ascertained in the Netherlands [Marres and Cremers, 1991;MIM 120502] (Fig. 1).…”

Section: Materials and Methods Families And Collection Of Blood Samplesmentioning

confidence: 99%

“…Renal examination included blood and urine chemistry, renal ultrasonography, and intravenous pyelography. Details of the clinical evaluation and history were described earlier [Marres and Cremers, 1991].…”

Section: Clinical Evaluationmentioning

confidence: 99%

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13

et al. 1998

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The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes. Autosomal-dominant branchio-oto-renal syndrome comprises preauricular pits, branchial fistulas, hearing loss, and renal anomalies. However, several families have been described without one or more of these clinical findings. In some families, the phenotypic expression is limited to branchial anomalies, preauricular pits, and hearing loss, with no renal dysplasia (branchio-otic or BO syndrome). In other families, branchial and renal anomalies occur without hearing impairment. It is not known whether the variable clinical manifestations are due to the effect of a single gene or whether these represent different syndromes. We investigated BO syndrome in a large family to determine whether BOR and BO syndromes are allelic to each other. The genetic linkage analysis provides evidence that BO syndrome is not allelic to the BOR gene at 8q13.

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Congenital Conductive or Mixed Deafness, Preauricular Sinus, External Ear Anomaly, and Commissural Lip Pits: An Autosomal Dominant Inherited Syndrome

Cited by 26 publications

References 9 publications

Branchio‐oto‐renal syndrome

Branchio‐oto‐renal syndrome

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13

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