Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome

REFERENCES

• Keats B J, Corey D P. The Usher syndromes. Am J Med Genet. 1999; 89: 158–66
   PubMed Web of Science ®Google Scholar
• Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R. Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet 2006; 15, Spec No 2:R262–70. Review
   PubMed Web of Science ®Google Scholar
• Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston M D, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature. 1995; 374: 60–1
   PubMed Web of Science ®Google Scholar
• Verpy E, Leibovici M, Zwaenepoel I, Liu X Z, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats B J, Slim R, Petit C. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet 2000; 26: 51–5
   PubMed Web of Science ®Google Scholar
• Bolz H, von Brederlow B, Ramirez A, Bryda E C, Kutsche K, Nothwang H G, Seeliger M, del C-Salcedo Cabrera M, Vila M C, Molina O P, Gal A, Kubisch C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 2001; 27: 108–12
   PubMed Web of Science ®Google Scholar
• Ahmed Z M, Riazuddin S, Bernstein S L, Ahmed Z, Khan S, Griffith A J, Morell R J, Friedman T B, Riazuddin S, Wilcox E R. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 2001; 69: 25–34
   PubMed Web of Science ®Google Scholar
• Alagramam K N, Yuan H, Kuehn M H, Murcia C L, Wayne S, Srisailpathy C R, Lowry R B, Knaus R, Van Laer L, Bernier F P, Schwartz S, Lee C, Morton C C, Mullins R F, Ramesh A, Van Camp G, Hageman G S, Woychik R P, Smith R J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet 2001; 10: 1709–18, Erratum in: Hum Mol Genet. 2001;10:2603
   PubMed Web of Science ®Google Scholar
• Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina Z B, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 2003; 12: 463–71
   PubMed Web of Science ®Google Scholar
• Eudy J D, Weston M D, Yao S, Hoover D M, Rehm H L, Ma-Edmonds M, Yan D, Ahmad I, Cheng J J, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge C B, Beisel K W, Tamayo M, Morton C C, Swaroop A, Kimberling W J, Sumegi J. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science. 1998; 280: 1753–7
   PubMed Web of Science ®Google Scholar
• Weston M D, Luijendijk M W, Humphrey K D, Moller C, Kimberling W J. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 2004; 74: 357–66, Erratum in: Am J Hum Genet. 2004;74:1080
   PubMed Web of Science ®Google Scholar
• Ebermann I, Scholl H P, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan J M, Aller E, Mitter D, Bolz H. A novel gene for Usher syndrome type 2: Mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 2007; 121(2)203–11
   PubMed Web of Science ®Google Scholar
• Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millan J M, Lehesjoki A E, Flannery J G, Avraham K B, Pietrokovski S, Sankila E M, Beckmann J S, Lancet D. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 2002; 10: 339–50
   PubMed Web of Science ®Google Scholar
• Ouyang X M, Yan D, Du L L, Hejtmancik J F, Jacobson S G, Nance W E, Li A R, Angeli S, Kaiser M, Newton V, Brown S D, Balkany T, Liu X Z. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet 2005; 116: 292–9
   PubMed Web of Science ®Google Scholar
• Roux A F, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S. Claustres M; French Usher Syndrome Collaboration. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 2006; 43: 763–8
   PubMed Web of Science ®Google Scholar
• Ahmed Z M, Riazuddin S, Riazuddin S, Wilcox E R. The molecular genetics of Usher syndrome. Clin Genet 2003; 63: 431–44
   PubMed Web of Science ®Google Scholar
• Kalay E, de Brouwer A P, Caylan R, Nabuurs S B, Wollnik B, Karaguzel A, Heister J G, Erdol H, Cremers F P, Cremers C W, Brunner H G, Kremer H. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med 2005; 83: 1025–32
   PubMed Web of Science ®Google Scholar
• Jaijo T, Aller E, Oltra S, Beneyto M, Najera C, Ayuso C, Baiget M, Carballo M, Antinolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millan J M. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat 2006; 27: 290–1
   PubMedGoogle Scholar
• Najera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millan J M, Ayuso C. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat 2002; 20(1)76–7
   PubMedGoogle Scholar
• Aller E, Jaijo T, Oltra S, Alio J, Galan F, Najera C, Beneyto M, Millan J M. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Clin Genet 2004; 66: 525–9
   PubMed Web of Science ®Google Scholar