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Acta Oto-Laryngologica Volume 133, 2013 - Issue 4
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Original Article

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I

Tatsuo MatsunagaDepartment of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, TokyoCorrespondence[email protected]
,
Hideki MutaiDepartment of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo
,
Kazunori NambaDepartment of Otolaryngology, Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo
,
Noriko MoritaDepartment of Otolaryngology, Teikyo University School of Medicine, Tokyo
&
Sawako MasudaDepartment of Otorhinolaryngology, Institute for Clinical Research, National Mie Hospital, Tsu, Japan
Pages 345-351 | Received 19 Sep 2012, Accepted 20 Oct 2012, Published online: 20 Nov 2012

References

  • Read AP, Newton VE. Waardenburg syndrome. J Med Genet 1997;34:656–65.
  • Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet 1992;50:902–13.
  • Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet 1995;55:95–100.
  • Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, et al. Waardenburg syndrome: clinical differentiation between types I and II. Am J Med Genet A 2003;117A:223–35.
  • Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat 2010;31:391–406.
  • Milunsky JM, Maher TA, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test 2007;11:179–82.
  • Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, et al. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet 1989;33:505–7.
  • Soejima H, Fujimoto M, Tsukamoto K, Matsumoto N, Yoshiura KI, Fukushima Y, et al. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. Hum Mutat 1997;9:177–80.
  • Kashima T, Akiyama H, Kishi S. Asymmetric severity of diabetic retinopathy in Waardenburg syndrome. Clin Ophthalmol 2011;5:1717–20.
  • Kiefer F, Arnold K, Kunzli M, Bordoli L, Schwede T. The SWISS-MODEL Repository and associated resources. Nucleic Acids Res 2009;37:D387–92.
  • Xu W, Rould MA, Jun S, Desplan C, Pabo CO. Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations. Cell 1995;80:639–50.
  • Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, et al. UCSF Chimera – a visualization system for exploratory research and analysis. J Comput Chem 2004;25:1605–12.
  • Chalepakis G, Goulding M, Read A, Strachan T, Gruss P. Molecular basis of splotch and Waardenburg Pax-3 mutations. Proc Natl Acad Sci USA 1994;91:3685–9.
  • Corry GN, Underhill DA. Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations. Pigment Cell Res 2005;18:427–38.
  • Fortin AS, Underhill DA, Gros P. Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain. Hum Mol Genet 1997;6:1781–90.
  • Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A. Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat 1994;3:205–11.
  • Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, et al. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Hum Mol Genet 1994;3:1069–74.
  • Wang J, Li S, Xiao X, Wang P, Guo X, Zhang Q. PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. Mol Vis 2010;16:1146–53.
  • Baldwin CT, Hoth CF, Macina RA, Milunsky A. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet 1995;58:115–22.
  • Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet 1995;4:2131–7.

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