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Research Article

Familial nonsyndromic hearing loss with incomplete partition type II caused by novel DSPP gene mutations

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Pages 685-690 | Received 14 Mar 2018, Accepted 24 Mar 2018, Published online: 09 May 2018

References

  • Lien CH, Chang HY, Liu YP, et al. There is something in the ear: mondini dysplasia. J Pediatr. 2014;165:638–638 e1.
  • Paparella MM. Mondini's deafness. A review of histopathology. Ann Otol Rhinol Laryngol Suppl. 1980;89:1–10.
  • Sennaroglu L, Saatci I. A new classification for cochleovestibular malformations. Laryngoscope. 2002;112:2230–2241.
  • Hone SW, Smith RJ. Genetic screening for hearing loss. Clin Otolaryngol. 2003;28:285–290.
  • Yuan Y, You Y, Huang D, et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med. 2009;7:79.
  • Daneshi A, Hassanzadeh S, Abasalipour P, et al. Cochlear implantation in Mondini dysplasia. ORL J Otorhinolaryngol Relat Spec. 2003;65:39–44.
  • Griffith AJ, Telian SA, Downs C, et al. Familial Mondini dysplasia. Laryngoscope. 1998;108:1368–1373.
  • Chan KH, Eelkema EA, Furman JM, et al. Familial sensorineural hearing loss: a correlative study of audiologic, radiographic, and vestibular findings. Ann Otol Rhinol Laryngol. 1991;100:620–625.
  • Shikano H, Ohnishi H, Fukutomi H, et al. Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens. Pediatr Int. 2015;57:1192–1195.
  • Hernandez RN, Changa AR, Bassani L, et al. Cerebrospinal fluid otorrhea and pseudomonal meningitis in a child with Mondini dysplasia: case report. Childs Nerv Syst. 2015;31: 1613–1616.
  • Reith W, Yilmaz U, Heumuller I. [Malformations and abnormalities of the petrous portion of the temporal bone]. Radiologe. 2014;54:327–335.
  • Sennaroglu L, Bajin MD. Classification and Current Management of Inner Ear Malformations. Balkan Med J. 2017; 34:397–411.
  • Huang S, Han D, Yuan Y, et al. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med. 2011;9:167.
  • Vitelli F, Viola A, Morishima M, et al. TBX1 is required for inner ear morphogenesis. Hum Mol Genet. 2003;12:2041–2048.
  • Ito T, Noguchi Y, Yashima T, et al. Hereditary hearing loss and deafness genes in Japan. J Med Dent Sci. 2010;57:1–10.
  • Pannier S, Couloigner V, Messaddeq N, et al. Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Biochim Biophys Acta. 2009;1792:140–147.
  • Chen L, Guo W, Ren L, et al. A de novo silencer causes elimination of MITF-M expression and profound hearing loss in pigs. BMC Biol. 2016;14:52.
  • Xiao S, Yu C, Chou X, et al. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001;27:201–204.
  • MacDougall M, Simmons D, Luan X, et al. Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination. J Biol Chem. 1997;272:835–842.
  • Nieminen P, Papagiannoulis-Lascarides L, Waltimo-Siren J, et al. Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location. J Bone Miner Res. 2011;26:873–880.

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