References
- Melnick M, Bixler D, Nance WE, Silk K, Yune H. Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet 1976; 9: 25–34
- Stratakis CA, Lin JP, Rennert OM. 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 1998; 79: 209–14
- 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: 341–9
- 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: 582–9
- 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: 157–64
- Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, et al. BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet 1997; 5: 242–6
- Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004; 101: 8090–5
- Zou D, Silvius D, Fritzsch B, Xu PX. Eya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodes. Development 2004; 131: 5561–72
- Kim SH, Shin JH, Yeo CK, Chang SH, Park SY, Cho EH, et al. Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome. Int J Pediatr Otorhinolaryngol 2005; 69: 1123–8
- Lee KY, Kim S, Kim UK, Ki CS, Lee SH. Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. Int J Pediatr Otorhinolaryngol 2007; 71: 169–74
- Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004; 11: 377–94
- Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 2007; 28: 150–8
- Kim VN, Kataoka N, Dreyfuss G. Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science 2001; 293: 1832–6
- 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: 537–44
- Yashima T, Noguchi Y, Ishikawa K, Mizusawa H, Kitamura K. Mutation of the EYA1 gene in patients with branchio-oto syndrome. Acta Otolaryngol 2003; 123: 279–82
- Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M. Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Med Genet 2000; 37: 623–7
- Kemperman MH, Koch SM, Joosten FB, Kumar S, Huygen PL, Cremers CW. Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome. Arch Otolaryngol Head Neck Surg 2002; 128: 1033–8
- Propst EJ, Blaser S, Gordon KA, Harrison RV, Papsin BC. Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope 2005; 115: 1855–62
- Uno T, Sawada M, Kurotaki T, Shinomiya N. EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. Pediatr Int 2004; 46: 615–17
- Kemperman MH, Koch SM, Kumar S, Huygen PL, Joosten FB, Cremers CW. Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome. Int J Audiol 2004; 43: 523–32