{"id":301932,"date":"2025-11-22T18:16:07","date_gmt":"2025-11-22T18:16:07","guid":{"rendered":"https:\/\/www.newsbeep.com\/au\/301932\/"},"modified":"2025-11-22T18:16:07","modified_gmt":"2025-11-22T18:16:07","slug":"from-renal-biopsy-to-genetic-diagnosis-eya1-mutation-in-branchio-oto-renal-syndrome-with-renal-insufficiency-bmc-nephrology","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/au\/301932\/","title":{"rendered":"From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency | BMC Nephrology"},"content":{"rendered":"

Zou D, Silvius D, Rodrigo-Blomqvist S, Enerb\u00e4ck S, Xu PX. Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear. Dev Biol. 2006;298(2):430\u201341. https:\/\/doi.org\/10.1016\/j.ydbio.2006.06.049<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet. 1999;23(1):113\u20137. https:\/\/doi.org\/10.1038\/12722<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Xu PX, Zheng W, Laclef C, Maire P, Maas RL, Peters H, et al. Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Development. 2002;129(13):3033\u201344. https:\/\/doi.org\/10.1242\/dev.129.13.3033<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Feng H, Xu H, Chen B, Sun S, Zhai R, Zeng B, et al. Genetic and phenotypic variability in Chinese patients with branchio-oto-renal or branchio-oto syndrome. Front Genet. 2021;12765433. https:\/\/doi.org\/10.3389\/fgene.2021.765433<\/a>.<\/p>\n

Krug P, Morini\u00e8re V, Marlin S, Koubi V, Gabriel HD, Colin E, et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 2011;32(2):183\u201390. https:\/\/doi.org\/10.1002\/humu.21402<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Sewerin S, Aurnhammer C, Skubic C, Blagotin\u0161ek Cokan K, Jeruc J, Rozman D, et al. Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome. Clin Kidney J. 2024;17(1):sfad260doi. https:\/\/doi.org\/10.1093\/ckj\/sfad260<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Sajithlal G, Zou D, Silvius D, Xu PX. Eya 1 acts as a critical regulator for specifying the metanephric mesenchyme. Dev Biol. 2005;284(2):323\u201336. https:\/\/doi.org\/10.1016\/j.ydbio.2005.05.029<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Smith RJ, Schwartz C. Branchio-oto-renal syndrome. J Commun Disord. 1998;31(5):411\u201320. quiz 21. https:\/\/doi.org\/10.1016\/s0021-9924(98)00013-6<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Gigante M, d\u2019Altilia M, Montemurno E, Diella S, Bruno F, Netti GS, et al. Branchio-oto-renal syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. BMC Nephrol. 2013;1460. https:\/\/doi.org\/10.1186\/1471-2369-14-60<\/a>.<\/p>\n

Saiki R, Katayama K, Kitano M, Tsujimoto K, Tanaka F, Suzuki Y, et al. A Perihilar variant of focal segmental glomerulosclerosis due to de Novo Branchio-oto-renal syndrome. Intern Med. 2022;61(13):2033\u20138. https:\/\/doi.org\/10.2169\/internalmedicine.8508-21<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

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\u20139. https:\/\/doi.org\/10.1002\/humu.20048<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Furlano M, Mart\u00ednez V, Pybus M, Arce Y, Cresp\u00ed J, Venegas MDP, et al. Clinical and genetic features of autosomal dominant Alport syndrome: A cohort study. Am J Kidney Dis. 2021;78(4):560\u201370.e1. https:\/\/doi.org\/10.1053\/j.ajkd.2021.02.326<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a European community Alport syndrome concerted action study. J Am Soc Nephrol. 2003;14(10):2603\u201310. https:\/\/doi.org\/10.1097\/01.asn.0000090034.71205.74<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Spear GS, Slusser RJ. Alport\u2019s syndrome. Emphasizing electron microscopic studies of the glomerulus. Am J Pathol. 1972;69(2):213\u2013\u200924.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Gulati A, Dahl N, Tufro A. Inherited glomerular diseases in the gilded age of genomic advancements. Pediatr Nephrol. 2020;35(6):959\u201368. https:\/\/doi.org\/10.1007\/s00467-019-04266-y<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

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\u201364. https:\/\/doi.org\/10.1038\/ng0297-157<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 1990;248(4960):1224\u20137. https:\/\/doi.org\/10.1126\/science.2349482<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol. 2001;12(1):97\u2013106. https:\/\/doi.org\/10.1681\/asn.V12197<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364\u201375. https:\/\/doi.org\/10.1681\/asn.2012020148<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M. Mutations of a human homologue of the drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000;9(3):363\u20136. https:\/\/doi.org\/10.1093\/hmg\/9.3.363<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Chen A, Francis M, Ni L, Cremers CW, Kimberling WJ, Sato Y, et al. Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet. 1995;58(4):365\u201370. https:\/\/doi.org\/10.1002\/ajmg.1320580413<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC. A family with the branchio-oto-renal syndrome: clinical and genetic correlations. Nephrol Dial Transpl. 2002;17(6):1014\u20138. https:\/\/doi.org\/10.1093\/ndt\/17.6.1014<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Spahiu L, Merovci B, Ismaili Jaha V, Batalli K\u00ebpuska A, Jashari H. Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome. Balkan J Med Genet. 2016;19(2):91\u20134. https:\/\/doi.org\/10.1515\/bjmg-2016-0042<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Annear NM, Gale DP, Loughlin S, Dorkins HR, Maxwell PH. End-stage renal failure associated with congenital deafness. NDT Plus. 2008;1(3):171\u20135. https:\/\/doi.org\/10.1093\/ndtplus\/sfn019<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Li G, Shen Q, Sun L, Liu H, An Y, Xu H. A de Novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome. Intractable Rare Dis Res. 2018;7(1):42\u20135. https:\/\/doi.org\/10.5582\/irdr.2017.01075<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Nardi E, Palermo A, Cusimano P, Mul\u00e8 G, Cerasola G. Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. Clin Nephrol. 2011;76(4):330\u20133. https:\/\/doi.org\/10.5414\/cn106676<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Jankauskien\u0117 A, Azukaitis K. Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome. Eur J Pediatr. 2013;172(2):273\u20135. https:\/\/doi.org\/10.1007\/s00431-012-1795-4<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Raspino M, Tarantino V, Moni L, Verrina E, Ciardi MR, Gusmano R. The branchio-oto-renal syndrome (report of two family groups). J Laryngol Otol. 1988;102(2):138\u201341. https:\/\/doi.org\/10.1017\/s0022215100104335<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Morisada N, Nozu K, Iijima K. Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. Pediatr Int. 2014;56(3):309\u201314. https:\/\/doi.org\/10.1111\/ped.12357<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Bertucci E, Mazza V, Lugli L, Ferrari F, Stanghellini I, Percesepe A. Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester. J Obstet Gynaecol Res. 2015;41(11):1831\u20134. https:\/\/doi.org\/10.1111\/jog.12791<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Lin Z, Li J, Pei Y, Mo Y, Jiang X, Chen L. Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases. BMC Nephrol. 2023;24(1):248. https:\/\/doi.org\/10.1186\/s12882-023-03193-3<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

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. https:\/\/doi.org\/10.1002\/humu.20714<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

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\u20134. https:\/\/doi.org\/10.1086\/513322<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC. A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. Am J Med Genet A. 2009;149a(3):322\u20137. https:\/\/doi.org\/10.1002\/ajmg.a.32679<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

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\u201344. https:\/\/doi.org\/10.1002\/humu.20691<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

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\u201331. https:\/\/doi.org\/10.1038\/sj.ejhg.5201900<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Chen A, Ling J, Feng Y. Genetic research progress in branchio-oto syndrome\/ branchio-oto-renal syndrome. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022;47(1):129\u201338. https:\/\/doi.org\/10.11817\/j.issn.1672-7347.2022.210251<\/a>.<\/p>\n


\n Google Scholar<\/a>\u00a0\n <\/p>\n

Zhang S, Chen X, Jin E, Wang A, Chen T, Zhang X, et al. The GSA family in 2025: a broadened sharing platform for multi-omics and multimodal data. Genomics Proteom Bioinf. 2025;23(4). https:\/\/doi.org\/10.1093\/gpbjnl\/qzaf072<\/a>.<\/p>\n

Database Resources of the National Genomics Data Center, China National Center for Bioinformation in 2025. Nucleic Acids Res. 2025;53(D1):D30\u201344. https:\/\/doi.org\/10.1093\/nar\/gkae978<\/a>.<\/p>\n


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