Hoskins et al. (2007) reported 5 patients with a clinical diagnosis of BOR who carried heterozygous mutations in the SIX5 gene. One of the patients had bilateral dysplastic kidneys and a right preauricular tag but normal hearing. A ... Hoskins et al. (2007) reported 5 patients with a clinical diagnosis of BOR who carried heterozygous mutations in the SIX5 gene. One of the patients had bilateral dysplastic kidneys and a right preauricular tag but normal hearing. A second had bilateral cervical fistulae; right-sided hemifacial microsomia, preauricular sinus, and pinna malformation; hearing loss in both ears, with the right side more affected than the left; and bilateral renal dysplasia with diminished renal function. Another patient had cervical fistulae and hypoplastic kidneys, and a fourth had cervical fistulae, moderate to severe hearing loss in both ears, and left renal agenesis with a hypoplastic right kidney. Clinical data were unavailable in the fifth subject.
Hoskins et al. (2007) identified 4 mutations in the SIX5 gene (600963) as a novel cause of BOR in 5 patients. The SIX5 gene was considered a good candidate for BOR owing to its similarity to SIX1 (601205), ... Hoskins et al. (2007) identified 4 mutations in the SIX5 gene (600963) as a novel cause of BOR in 5 patients. The SIX5 gene was considered a good candidate for BOR owing to its similarity to SIX1 (601205), mutations in which cause branchiootic syndrome-3 (608389), and data on C. elegans on its direct interaction with eya-1 (601653), mutations in which also cause BOR (Li et al., 2004).