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Gene Review

DFNX3  -  deafness, X-linked 3

Homo sapiens

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Disease relevance of DFN4


Psychiatry related information on DFN4

  • In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth [5].

High impact information on DFN4


Chemical compound and disease context of DFN4


Biological context of DFN4


Anatomical context of DFN4


Other interactions of DFN4


Analytical, diagnostic and therapeutic context of DFN4


  1. Clinical evidence for dystrophin dysfunction as a cause of hearing loss in locus DFN4. Pfister, M.H., Apaydin, F., Turan, O., Bereketoglu, M., Bilgen, V., Braendle, U., Kose, S., Zenner, H.P., Lalwani, A.K. Laryngoscope (1999) [Pubmed]
  2. Facial nerve anomalies in association with congenital hearing loss. Al-Mazrou, K.A., Alorainy, I.A., Al-Dousary, S.H., Richardson, M.A. Int. J. Pediatr. Otorhinolaryngol. (2003) [Pubmed]
  3. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Bitner-Glindzicz, M., Lindley, K.J., Rutland, P., Blaydon, D., Smith, V.V., Milla, P.J., Hussain, K., Furth-Lavi, J., Cosgrove, K.E., Shepherd, R.M., Barnes, P.D., O'Brien, R.E., Farndon, P.A., Sowden, J., Liu, X.Z., Scanlan, M.J., Malcolm, S., Dunne, M.J., Aynsley-Green, A., Glaser, B. Nat. Genet. (2000) [Pubmed]
  4. IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Tyson, J., Tranebjaerg, L., Bellman, S., Wren, C., Taylor, J.F., Bathen, J., Aslaksen, B., Sørland, S.J., Lund, O., Malcolm, S., Pembrey, M., Bhattacharya, S., Bitner-Glindzicz, M. Hum. Mol. Genet. (1997) [Pubmed]
  5. The Johanson-Blizzard syndrome: case report and autopsy findings. Daentl, D.L., Frías, J.L., Gilbert, E.F., Opitz, J.M. Am. J. Med. Genet. (1979) [Pubmed]
  6. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Bolz, H., von Brederlow, B., Ramírez, A., Bryda, E.C., Kutsche, K., Nothwang, H.G., Seeliger, M., del C-Salcedó Cabrera, M., Vila, M.C., Molina, O.P., Gal, A., Kubisch, C. Nat. Genet. (2001) [Pubmed]
  7. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Green, G.E., Scott, D.A., McDonald, J.M., Woodworth, G.G., Sheffield, V.C., Smith, R.J. JAMA (1999) [Pubmed]
  8. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. Borck, G., Roth, C., Martiné, U., Wildhardt, G., Pohlenz, J. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  9. Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome. Fugazzola, L., Mannavola, D., Cerutti, N., Maghnie, M., Pagella, F., Bianchi, P., Weber, G., Persani, L., Beck-Peccoz, P. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  10. Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family. Vaidya, B., Coffey, R., Coyle, B., Trembath, R., San Lazaro, C., Reardon, W., Kendall-Taylor, P. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  11. Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. Kopp, P., Arseven, O.K., Sabacan, L., Kotlar, T., Dupuis, J., Cavaliere, H., Santos, C.L., Jameson, J.L., Medeiros-Neto, G. J. Clin. Endocrinol. Metab. (1999) [Pubmed]
  12. Clinical phenotype of DFN2, DFN4 and DFN6. Pfister, M.H., Lalwani, A.K. Adv. Otorhinolaryngol. (2002) [Pubmed]
  13. Piebaldism with deafness: molecular evidence for an expanded syndrome. Spritz, R.A., Beighton, P. Am. J. Med. Genet. (1998) [Pubmed]
  14. Assessment of ventricular repolarization in a large group of children with early onset deafness. Tutar, E., Tekin, M., Uçar, T., Comak, E., Ocal, B., Atalay, S. Pacing and clinical electrophysiology : PACE. (2004) [Pubmed]
  15. Congenital sensorineural deafness in dogs: a molecular genetic approach toward unravelling the responsible genes. Rak, S.G., Distl, O. Vet. J. (2005) [Pubmed]
  16. Asymptomatic congenital cytomegalovirus infection. Audiologic, neuroradiologic, and neurodevelopmental abnormalities during the first year. Williamson, W.D., Percy, A.K., Yow, M.D., Gerson, P., Catlin, F.I., Koppelman, M.L., Thurber, S. Am. J. Dis. Child. (1990) [Pubmed]
  17. Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. Bidart, J.M., Mian, C., Lazar, V., Russo, D., Filetti, S., Caillou, B., Schlumberger, M. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  18. Hypoplasia of the bony canal for the cochlear nerve in patients with congenital sensorineural hearing loss: initial observations. Fatterpekar, G.M., Mukherji, S.K., Alley, J., Lin, Y., Castillo, M. Radiology. (2000) [Pubmed]
  19. A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome. Robinson, D., Lamont, M., Curtis, G., Shields, D.C., Phelps, P. Hum. Genet. (1992) [Pubmed]
  20. Wildervanck or cervico-oculo-acoustic syndrome and MRI findings. Hughes, P.J., Davies, P.T., Roche, S.W., Matthews, T.D., Lane, R.J. J. Neurol. Neurosurg. Psychiatr. (1991) [Pubmed]
  21. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. Hendriks, Y.M., Laan, L.A., Vielvoye, G.J., van Haeringen, A. Am. J. Med. Genet. (1999) [Pubmed]
  22. A second family with nonsyndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD. Pfister, M.H., Apaydin, F., Turan, O., Bereketoglu, M., Bylgen, V., Braendle, U., Zenner, H.P., Lalwani, A.K. Genomics (1998) [Pubmed]
  23. Congenital sensorineural deafness associated with EEG abnormalities, epilepsy and high familial incidence. Fishman, J.E., Gadoth, N., Radvan, H. Developmental medicine and child neurology. (1983) [Pubmed]
  24. Cochlear implantation for children with GJB2-related deafness. Cullen, R.D., Buchman, C.A., Brown, C.J., Copeland, B.J., Zdanski, C., Pillsbury, H.C., Shores, C.G. Laryngoscope (2004) [Pubmed]
  25. Cochlear implants in young children with Usher's syndrome. Young, N.M., Johnson, J.C., Mets, M.B., Hain, T.C. The Annals of otology, rhinology & laryngology. Supplement. (1995) [Pubmed]
  26. Cochlear implantation in Jervell and Lange-Nielsen syndrome. Chorbachi, R., Graham, J.M., Ford, J., Raine, C.H. Int. J. Pediatr. Otorhinolaryngol. (2002) [Pubmed]
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