The Experts below are selected from a list of 24 Experts worldwide ranked by ideXlab platform
Luis Castaño - One of the best experts on this subject based on the ideXlab platform.
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Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.
Pediatric Nephrology, 2001Co-Authors: Juan Rodríguez-soriano, Alfredo Vallo, Jose Ramon Bilbao, Luis CastañoAbstract: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.
Juan Rodríguez-soriano - One of the best experts on this subject based on the ideXlab platform.
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Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.
Pediatric Nephrology, 2001Co-Authors: Juan Rodríguez-soriano, Alfredo Vallo, Jose Ramon Bilbao, Luis CastañoAbstract: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.
Alfredo Vallo - One of the best experts on this subject based on the ideXlab platform.
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Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.
Pediatric Nephrology, 2001Co-Authors: Juan Rodríguez-soriano, Alfredo Vallo, Jose Ramon Bilbao, Luis CastañoAbstract: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.
Jose Ramon Bilbao - One of the best experts on this subject based on the ideXlab platform.
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Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.
Pediatric Nephrology, 2001Co-Authors: Juan Rodríguez-soriano, Alfredo Vallo, Jose Ramon Bilbao, Luis CastañoAbstract: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.
Jashari H - One of the best experts on this subject based on the ideXlab platform.
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Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome
Sciendo, 2016Co-Authors: Spahiu L, Merovci B, Ismaili Jaha, Batalli Këpuska A, Jashari HAbstract:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, External Ear Malformation with pre-auricular pits or tags, hEaring impairment and renal Malformations. However, the presence of the main features varies in affected families. Here, we present a 16-yEar-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 yEars ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or External Ear anomalies or similar findings in other family members
