Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family

References

• Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D. et al. 1997a. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nature Genet, 15(2), 157–164.
   PubMed Web of Science ®Google Scholar
• Abdelhak S., Kalatzis V., Heilig R., Compain S., Samson D. et al. 1997b. Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet, 6(13), 2247–2255.
   PubMed Web of Science ®Google Scholar
• Buller C., Xu X., Marquis V., Schwanke R. & Xu P.X. 2001. Molecular effects of EYA1 domain mutations causing organ defects in BOR syndrome. Hum Mol Genet, 10(24), 2775–2781.
   PubMed Web of Science ®Google Scholar
• Castiglioni A., Melchionda S., Carella M., Trevisi P., Bovo R. et al. 2014. EYA-1-related disorders: Two clinical cases and a literature review. Int J Pediatr Otorhinolaryngol, 78(8), 1201–1210.
   PubMed Web of Science ®Google Scholar
• Chen A., Francis M., Ni L., Cremers C.W., Kimberling W.J. et al. 1995. Phenotypic manifestations of branchiootorenal syndrome. Am J Med Genet, 58(4), 365–370.
   PubMed Web of Science ®Google Scholar
• Chen R., Amoui M., Zhang Z. & Mardon G. 1997. Dachshund and eyes absent proteins form a complex and function synergistically to induce ectopic eye development in Drosophila. Cell, 91(7), 893–903.
   PubMed Web of Science ®Google Scholar
• Fan X., Brass L.F., Poncz M., Spitz F., Maire P. et al. 2000. The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing proteins. J Biol Chem, 275(41), 32129–32134.
   PubMed Web of Science ®Google Scholar
• Fraser F.C., Sproule J.R. & Halal F. 1980. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet, 7(3), 341–349.
   PubMed Web of Science ®Google Scholar
• Gigante M., d’Altilia M., Montemurno E., Diella S., Bruno F. et al. 2013. Branchio-oto-renal syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. BMC Nephrol, 14, 60.
   PubMed Web of Science ®Google Scholar
• Haan E.A., Hull Y.J., White S., Cockington R., Charlton P. et al. 1989. Tricho-rhino-phalangeal and branchio-oto-renal syndrome in a family with an inherited rearrangement of chromosome 8q. Am J Med Genet, 32(4), 490–494.
   PubMed Web of Science ®Google Scholar
• Hoskins B.E., Cramer C.H. II., Silvius D., Zou D., Raymond R.M. Jr. et al. 2007. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. A. J Hum Genet, 80(4), 800–804.
   PubMed Web of Science ®Google Scholar
• Konig R., Fuchs S. & Dukiet C. 1994. Branchio-oto-renal (BOR) syndrome: Variable expressivity in a five-generation pedigree. Eur J Pediatr, 153(6), 446–450.
   PubMed Web of Science ®Google Scholar
• Kumar S., Marres H.A.M., Cremers C.W.R.J. & Kimberling W.J. 1998. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Am J Med Genet, 76(5), 395–401.
   PubMed Web of Science ®Google Scholar
• Landgraf K., Bollig F., Trowe M.O., Besenbeck B., Ebert C. et al. 2010. Sipl1 and Rbck1 are novel EYA1-binding proteins with a role in craniofacial development. Mol Cell Biol, 30(24), 5764–5775.
   PubMed Web of Science ®Google Scholar
• Li X., Oghi K.A., Zhang J., Krones A, Bush K.T. et al. 2003. Eya protein phosphatase activity regulates SIX1-Dach-Eya transcriptional effects in mammalian organogenesis. Nature, 426, 247–254.
   PubMed Web of Science ®Google Scholar
• Livak K.J. & Schmittgen T.D. 2001. Analysis of relative gene expression data using real-time quantitative PCR and the 22DDCT method. Methods, 25, 402–408. Doi:10.1006/meth.2001.1262.
   PubMed Web of Science ®Google Scholar
• Musharraf A., Kruspe D., Tomasch J., Besenbeck B., Englert C. et al. 2014. BOR-syndrome-associated EYA1 mutations lead to enhanced proteasomal degradation of EYA1 protein. PLoS One, 9(1), e87407.
   PubMed Web of Science ®Google Scholar
• Ni L., Wagner M.J., Kimberling W.J., Pembrey M.E., Grundfast K.M. et al. 1994. Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. Am J Med Genet, 51(2), 176–184.
   PubMed Web of Science ®Google Scholar
• Ruf R.G., Berkman J., Wolf M.T.F., Nurnberg P., Gattas M. et al. 2003. A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. J Med Genet, 40(7), 515–519.
   PubMed Web of Science ®Google Scholar
• Ruf R.G., Xu P.X., Silvius D., Otto E.A., Beekmann F. et al. 2004. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA, 101(21), 8090–8095.
   PubMed Web of Science ®Google Scholar
• Shimasaki N., Watanabe K., Hara M. & Kosaki K. 2004. EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Pediatr Cardiol, 25(4), 411–413.
   PubMed Web of Science ®Google Scholar
• Spruijt L., Hoefsloot L.H., van Schaijk G.H., van Waardenburg D., Kremer B. et al. 2006. Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. Am J Med Genet A, 140(12), 1343–1345.
   PubMed Web of Science ®Google Scholar
• Stockley T.L., Mendonza-Londono R., Porpst E.J., Sodhi S., Dupuis L. et al. 2009. A recurrent E YA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism. Am J Med Genet A, 149A(3), 322–327.
   PubMed Web of Science ®Google Scholar
• Stratakis C.A., Lin J-P. & Rennert O.M. 1998. Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). Am J Med Genet, 79(3), 209–214.
   PubMed Web of Science ®Google Scholar
• Tootle T.L., Silver S.J., Davies E.L., Newman V., Latek R.R. et al. 2003. The transcription factor Eyes absent is a protein tyrosine phosphatase. Nature, 426(6964), 299–302.
   PubMed Web of Science ®Google Scholar
• Vincent C., Kalatzis V., Abdelhak S., Chaib H., Compain S. et al. 1997. BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet, 5(4), 242–6.
   PubMed Web of Science ®Google Scholar
• Wang Y., Treat K., Schroer R.J., O Brien J.E., Stevenson R.E. et al. 1994. Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. Am J Med Genet, 51(2), 169–175.
   PubMed Web of Science ®Google Scholar
• Wang S.H., Wu C.C., Lu Y.C., Lin Y.H., Su Y.N. et al. 2012. Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. Laryngoscope, 122(5), 1130–1136.
   PubMed Web of Science ®Google Scholar
• Weber S., Taylor J.C., Winyard P., Baker K.F., Sullivan-Brown J. et al. 2008. SIX2 and BMP4 mutations associate with anomalous kidney development. J Am Soc Nephrol, 19(5), 891–903.
   PubMed Web of Science ®Google Scholar
• Xu P.X., Cheng J., Epstein J.A. & Maas R.L. 1997. Mouse Eya genes are expressed during limb tendon development and encode a transcriptional activation function. Proc Natl Acad Sci USA, 94, 11974–11979.
   PubMed Web of Science ®Google Scholar