References
- Hallgren B. Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study. Acta Psychiatr Scand Suppl 1959;34:1–101.
- Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983;36:595–603.
- National Institutes of Health. Usher Syndrome. Accessed 24 September, 2014 from: http://www.ushersyndrome.nih.gov/resources/loci.html
- Weil D, Blanchard S, Kaplan J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995;374:60–61.
- Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014;133:1–9.
- Keogh IJ, Godinho RN, Wu T, et al. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome. Int J Pediatr Otorhi 2004;68:1063–1068.
- Jaijo T, Aller E, Oltra S, et al. Mutations profile of the MYO7A gene in Spanish patients with Usher síndrome type I. Hum Mutat 2006;27:290–291.
- Altschul SF, Gish W, Miller W, et al. Basic local alignment search tool. J Mol Biol 1990;215:403–410.
- Retinal and hearing impairment genetic mutation database myosin VIIA (MYO7A) (2014). Accessed 7 October, 2014 from: http://www.LOVD.nl/MYO7A
- Kusters A. Deaf utopias? Reviewing the sociocultural literature on the world’s ‘Martha’s Vineyard Situations’. J Deaf Sud Deaf Educ 2010;15:3–16.
- Bonné-Tamir B, Nystuen A, Seroussi E, et al. Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. Am J Phys Anthropol 1997;104:193–200.
- Lattig MC, Gelvez N, Plaza SL, et al. Deafness on the island of Providencia – Colombia: different etiology, different genetic counseling. Genet Couns 2008;19:403–412.
- Chishti AH, Kim AC, Marfatia SM, et al. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci 1998;23:281–282.
- Umeki N, Jung H, Watanabe S, et al. The tail binds to the head-neck domain, inhibiting ATPase activity of myosin VIIA. PNAS 2009;106:8483–8488.
- Schwander M., Lopes V, Sczaniecka A, et al. A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells. J Neurosci 2009;29:15810–15818.
- Riazuddin S, Nazli S, Ahmed ZM, et al. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 2008;29:502–511.
- Jacobson SG, Cideciyan AV, Gibbs D, et al. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. IOVS 2011;52:7924–7936.