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      Síndrome branquio-oto-renal: A propósito de una familia Translated title: Branchio-oto-renal síndrome: Apropos of a family

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          Abstract

          El síndrome branquio-oto-renal es un trastorno que se transmite con un patrón autosómico dominante caracterizado por lesiones producidas por un trastorno embriológico branquial (fístulas o quistes branquiales), alteraciones del oído (hoyuelos o fositas preauriculares, apéndices, hipoplasias de pabellones auriculares y sordera), así como diversos tipos de displasia renal que pueden ir desde duplicaciones, desplazamientos e hipoplasias, hasta la agenesia renal y otras malformaciones mayores. Se presenta una familia integrada por un padre y dos hijos de ambos sexos y de diferentes matrimonios, en la cual se constató la presencia de este síndrome poco frecuente

          Translated abstract

          The branchio-oto-renal syndrome is a disorder that is transmitted with a dominant autosomic pattern characterized y lesions produced by a branchial embriological disorder (fistulas or branchial cysts), alterations of the ear (preauricular small pits or fossae, appendices, hypoplasias of auricular pavilions and deafness), as well as diverse types of renal dysplasia that may go from duplications and displacements to renal agenesia and other major malformations. A family composed of a father and two children of both sexes from different marriages, in which the presence of this uncommon syndrome was confirmed, is presented

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          Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.

          V Faucet-Marquis, P Xu, R Schwanke … (2001)
          Eya1 is a critical gene for mammalian organogenesis. Mutations in human EYA1 cause branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by varying combinations of branchial, otic and renal anomalies, whereas deletion of mouse Eya1 results in the absence of multiple organ formation. Eya1 and other Eya gene products share a highly conserved 271 amino acid Eya domain that is required for protein-protein interaction. Recently, several point mutations that result in single amino acid substitutions in the conserved Eya domain region of EYA1 have been identified in BOR patients; however, the molecular and developmental basis of organ defects that occurred in BOR syndrome is unclear. To understand how these point mutations cause disease, we have analyzed the functional importance of these Eya domain missense mutations with respect to protein complex formation and cellular localization. We have demonstrated that these point mutations do not alter protein localization. However, four mutations are crucial for protein-protein interactions in both yeast and mammalian cells. Our results provide insights into the molecular mechanisms of organ defects detected in human syndromes.
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            A family with the branchio-oto-renal syndrome: clinical and genetic correlations.

            Kyproula Demetriou, M Koptides, C C Deltas … (2002)
            The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% of family affected members. So far, it has not received due attention in the adult European nephrology literature and because of the combination of deafness with chronic renal failure it may be confused with the Alport syndrome. The BOR syndrome is caused by mutations in the EYA1 gene that maps on chromosome 8q13.3. A three-generation, 20-member large BOR Greek-Cypriot family has been studied and followed up clinically over a 27-year period. The findings in four individuals who developed early onset renal failure are described in detail. Genetic DNA linkage studies have also been carried out. Of the 15 family members at risk, 14 were tested with DNA linkage analysis. Ten members were genetically affected and four were normal. All 10 affected members developed early-onset deafness. Some had different ear lobe abnormalities. Nine affected members had preauricular pits. In some of the patients these pits were deep and prominent while in others they were minor and superficial. Eight affected members had early-onset branchial clefts that needed early corrective surgery without the correct familial diagnosis ever being made. End-stage renal disease (ESRD) developed in four members at ages 36, 14, 17, and 17 with minimal proteinuria, if any. This was due to unilateral renal agenesis with contralateral hypodysplasia or bilateral, severe renal hypodysplasia. The BOR syndrome is an infrequent but well-described entity that combines early-onset renal failure and deafness together with branchial clefts and preauricular pits. Renal agenesis and dysplasia are the causes of ESRD in these individuals. Other renal abnormalities include bifid kidneys with double ureters, vesico-ureteric reflux and pelvi-ureteric stenoses. The BOR syndrome should be included in the differential diagnosis of deafness and chronic renal failure in childhood and adolescence.
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              Branchio-Oto-renal syndrome: a report on nine family groups.

              F Perfumo, Valeria Bertini, C Bellini … (2001)
              This study reviews nine new families with branchio-oto-renal (BOR) syndrome (Online Mendelian Inheritance in Man [OMIM] 113650). Diagnosis was made by studying 10 index cases, and then 22 other previously undetected patients were diagnosed within the nine families. The syndrome consists of conductive, sensorineural, or mixed hearing loss; preauricular pits; structural defects of the outer, middle, or inner ear; renal anomalies; lateral cervical fistulas, cysts, or sinuses; and/or nasolacrimal duct stenosis or fistulas. In our study, all patients first diagnosed in each familial group were recognized on the basis of severe renal anomalies associated with at least one of these symptoms. Our study showed that BOR syndrome is a misdiagnosed disorder, usually recognized in the presence of severe renal failure but often not diagnosed, especially in the adult in the presence of other isolated clinical signs, such as mild branchial or urological anomalies. We stress the meticulous search we performed for renal anomalies and/or hearing loss in all subjects showing minimal signs of branchial defects. BOR syndrome should be suspected in all cases of isolated urological anomalies, even if no other signs of the syndrome are present. After BOR syndrome has been diagnosed in a patient, all family members should be examined for the presence of the syndrome, even if there are only minimal stigmata of the disease.
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                Author and article information

                Journal
                Journal ID (publisher-id): ped
                Title: Revista Cubana de Pediatría
                Abbreviated Title: Rev Cubana Pediatr
                Publisher: Centro Nacional de Información de Ciencias Médicas; Editorial Ciencias Médicas (La Habana, , Cuba )
                ISSN (Print): 0034-7531
                ISSN (Electronic): 1561-3119
                Publication date (Print and electronic): June 2005
                Volume: 77
                Issue: 2
                Affiliations
                [01] Santa Clara. Villa Clara. orgnameCentro provincial de Genética Medica, Santa Clara. Villa Clara. arcas.gretsy@ 123456medscape.com
                Article
                Publisher ID: S0034-75312005000200009 Publisher ID: S0034-7531(05)07700209
                SO-VID: 3377085f-beef-4137-ac55-4fc244f34b13
                License:

                This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

                History
                Date accepted : 15 January 2005
                Date received : 17 May 2004
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 10, Pages: 0
                Product

                SciELO Cuba

                Categories
                Subject: PRESENTACIONES DE CASOS

                Keywords: Síndrome branquio-oto-renal,Branchio-oto-renal syndrome
                Data availability:
                Keywords: Síndrome branquio-oto-renal, Branchio-oto-renal syndrome

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