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A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

By Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Sophie Tronche, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi Bhattacharya and Christina Zeitz
Topics: Research Article
Publisher: Molecular Vision
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Provided by: PubMed Central

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  12. (2010). Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomalrecessive retinitis pigmentosa.
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  19. (2011). Molecular Vision 1605syndrome patients of diverse origin.
  20. (2010). Mutations in C2ORF71 cause autosomalrecessive retinitis pigmentosa.
  21. (2010). Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
  22. (2009). Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
  23. (2005). Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet
  24. (2005). Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
  25. (2011). Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort. Hum Mutat
  26. (2006). Retinitis pigmentosa. Lancet
  27. (2011). RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999; 15:74-80. [PMID: 10098411] Molecular Vision 2011; 17:1598-1606 ©
  28. (2005). the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet
  29. (2006). The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet
  30. (1983). Usher syndrome: definition and estimate of prevalence from two high-risk populations.
  31. (2006). Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet
  32. (2006). Whirlin complexes with p55 at the stereocilia tip during hair cell development.