Open Access

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome


Cite

Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC. A family with the branchio-oto-renal syndrome: Clinical and genetic correlations. Nephrol Dial Transplant. 2002; 17(6): 1014-1018.PieridesAMAthanasiouYDemetriouKKoptidesMDeltasCCA family with the branchio-oto-renal syndrome: Clinical and genetic correlationsNephrol Dial Transplant20021761014101810.1093/ndt/17.6.1014Search in Google Scholar

Misra M, Nolph KD. Renal failure and deafness: Branchio-oto-renal syndrome. Am J Kidney Dis. 1998; 32(2): 334-337.MisraMNolphKD.Renal failure and deafness: Branchio-oto-renal syndromeAm J Kidney Dis199832233433710.1053/ajkd.1998.v32.pm9708623Search in Google Scholar

Fraser FC, Sproule JR, Halal F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet. 1980; 7(3): 341-349.FraserFCSprouleJRHalalF.Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing lossAm J Med Genet19807334134910.1002/ajmg.1320070316Search in Google Scholar

Stinckens C, Standaert L, Casselman JW, Huygen PL, Kumar S, Van de Wallen J, et al. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol. 2001; 59(3): 163-172.StinckensCStandaertLCasselmanJWHuygenPLKumarSVan de WallenJet alThe presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family studyInt J Pediatr Otorhinolaryngol200159316317210.1016/S0165-5876(01)00473-6Search in Google Scholar

Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, et al. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 2004; 23(6): 582-589.ChangEHMenezesMMeyerNCCucciRAVervoortVSSchwartzCEet alBranchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequencesHum Mutat200423658258910.1002/humu.20048Search in Google Scholar

Fraser FC, Ling D, Clogg D, Nogrady B. Genetic aspects of the BOR syndrome – Branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet. 1978; 2(3): 241-252.FraserFCLingDCloggDNogradyB.Genetic aspects of the BOR syndrome – Branchial, fistulas ear, pits hearing loss, and renal anomaliesAm J Med Genet19782324125210.1002/ajmg.1320020305Search in Google Scholar

Kumar S, Kimberling WJ, Kenyon JB, Smith RJ, Marres HA, Cremers CW. Autosomal dominant bran-chio-oto-renal syndrome – Localization of a disease gene to chromosome 8q by linkage in a Dutch family. Hum Mol Genet. 1992; 1(7): 491-495.KumarSKimberlingWJKenyonJBSmithRJMarresHACremersCW.Autosomal dominant bran-chio-oto-renal syndrome – Localization of a disease gene to chromosome 8q by linkage in a Dutch familyHum Mol Genet19921749149510.1093/hmg/1.7.491Search in Google Scholar

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997; 15(2): 157-164.AbdelhakSKalatzisVHeiligRCompainSSamsonDVincentCet alA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyNat Genet199715215716410.1038/ng0297-157Search in Google Scholar

Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, et al. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: A recurrent missense mutation associated with BOR. Hum Mutat. 2008; 29(4): 565-570.KochharAOrtenDJSorensenJLFischerSMCremersCWKimberlingWJet alSIX1 mutation screening in 247 branchio-oto-renal syndrome families: A recurrent missense mutation associated with BORHum Mutat200829456557010.1002/humu.20714Search in Google Scholar

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007; 80(4): 800-804.HoskinsBECramerCHSilviusDZouDRaymondRMOrtenDJet alTranscription factor SIX5 is mutated in patients with branchio-oto-renal syndromeAm J Hum Genet200780480080410.1086/513322Search in Google Scholar

Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, et al. Branchio-oto-renal syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007; 15(11): 1121-1131.SanggaardKMRendtorffNDKjaerKWEibergHJohnsenTGimsingSet alBranchio-oto-renal syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analysesEur J Hum Genet200715111121113110.1038/sj.ejhg.5201900Search in Google Scholar

Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, et al. Branchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 2008; 29(4): 537-544.OrtenDJFischerSMSorensenJLRadhakrishnaUCremersCWMarresHAet alBranchio-oto-renal syndrome (BOR): Novel mutations in the EYA1 gene, and a review of the mutational genetics of BORHum Mutat200829453754410.1002/humu.20691Search in Google Scholar

Lindau TA, Cardoso AC, Rossi NF, Giacheti CM. Anatomical changes and audiological profile in bran-chio-oto-renal syndrome: A literature review. Int Arch Otorhinolaryngol. 2014; 18(1): 68-76.LindauTACardosoACRossiNFGiachetiCM.Anatomical changes and audiological profile in bran-chio-oto-renal syndrome: A literature reviewInt Arch Otorhinolaryngol2014181687610.1055/s-0033-1358659Search in Google Scholar

eISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other