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Research Article

Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases

ORCID Icon, , , , , , , & show all
Pages 479-486 | Received 12 Feb 2019, Accepted 30 Mar 2019, Published online: 29 Apr 2019

References

  • Mazal C, Maria BG, Linda L. The changing face of Usher syndrome: clinical implications. Int J Audiol. 2007;46(2):82–93.
  • Crystel B, Aziz EA. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012;25(1):42–49.
  • Pranav M, Jun Y. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2015;1852(3):406–420.
  • Millán JM, Aller E, Jaijo T, et al. An update on the genetics of Usher syndrome. J Ophthalmol, 2011;2011:417217.
  • Xiao Mei O, Denise Y, Li Lin D, et al. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Gen. 2005;116(4):292–299.
  • Thomas B, Christel V, David B, et al. Non-USH2A mutations in USH2 patients. Hum Mutat. 2012;33(3):504–510.
  • Ness SL, Ben-Yosef T, Bar-Lev A, et al. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Gen. 2003;40(10):767–772.
  • Groth KA, Anne SK, Christian HS, et al. Clinical review: Klinefelter syndrome–a clinical update. J Clin Endocrinol Metab. 2013;98(1):20–30.
  • Wosnitzer MS, Paduch DA. Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2013;163(1):16–26.
  • Oza AM, DiStefano MT, Hemphill SE, et al. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593–1613.
  • Baux D, Larrieu L, Blanchet C, et al. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat. 2007;28(8):781–789.
  • Dai H, Zhang X, Zhao X, et al. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol Vis. 2008;14:2067–2075.
  • Tsuyoshi S, Hyun Suk J, Osamu S, et al. Structure and regulation of the movement of human myosin VIIA. J Biol Chem. 2015;290(28):17587–17598.
  • Sata M, Stafford WF, Mabuchi K, et al. The motor domain and the regulatory domain of myosin solely dictate enzymatic activity and phosphorylation-dependent regulation, respectively. Proc Natl Acad Sci USA. 1997;94(1):91–96.
  • Lin W, Lifeng P, Zhiyi W, et al. Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo. Science. 2011;331(6018):757–760.
  • Avital A, Gaelle L, Benjamin D, et al. Usherin, 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. 2005;14(24):3921–3932.
  • Tina M, Erwin VW, Nora O, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17(1):71–86.
  • Anders B, Svend J, Claus HG. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88(2):622–626.
  • Maiburg M, Repping S, Giltay J. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis. Fertil Steril. 2012;98(2):253–260.
  • Qi H, Xuan ZL, Du Y, et al. High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing. Eur J Obstet Gynecol Reprod Biol. 2018;224:21–28.

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