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Gene Review

DFNA43  -  deafness, autosomal dominant 43

Homo sapiens

 
 
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Disease relevance of DFNA43

 

Psychiatry related information on DFNA43

 

High impact information on DFNA43

  • A deafness-inducing missense mutation of PMCA2 (G293S) has been identified in a human family [9].
  • Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness [10].
  • The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3 [11].
  • Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3 [12].
  • A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss [12].
 

Chemical compound and disease context of DFNA43

 

Biological context of DFNA43

  • Ablation or missense mutations of the pump cause deafness, as described for the G283S mutation in the deafwaddler (dfw) mouse [9].
  • From other deafness genes, it is know that different mutations in the same gene may cause similar phenotypes of varying severity [15].
  • The present study was performed to determine whether the intraoperative monitoring of brainstem auditory evoked potentials (BAEPs) during microvascular decompression operations is effective in preventing profound hearing loss or deafness in the ipsilateral ear [16].
  • METHODS: The Department of Physiopathology, Experimental Medicine and Public Health of Siena University in collaboration with the Thermal Baths "Bagni delle Galleraie" proposed a prevention and cure campaign of rhinogenous deafness in June 2002 in some primary schools in the Colle val D'Elsa district [17].
  • Consanguinity with positive family history for deafness was found to be the most important factor in the genetically determined deafness [18].
 

Anatomical context of DFNA43

  • BACKGROUND AND AIM: Inner ear anomalies have been reported in approximately 30% of children with early onset deafness [19].
  • These procedures, however, still contain unpredictable risks such as uncontrolled stapes fracturing, luxation of the stapes or creating a floating footplate, which all can cause hearing loss or even deafness [20].
  • An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses [21].
  • The majority of patients had unilateral profound sensorineural hearing loss after removal of an acoustic neuroma or skull base tumor (59.1%) with the next most common etiology of deafness secondary to sudden sensorineural hearing loss (16.1%) [22].
 

Analytical, diagnostic and therapeutic context of DFNA43

  • Cochlear implantation in otosclerotic deafness [23].
  • Younger deaf adults tended to wear their hearing aids more frequently when they were at school if they had perceived their teachers had a positive attitude to deafness [24].
  • Only the duration of preimplant deafness, the pure tone hearing threshold and the correlation between eCAP and psychoacoustic levels have a significant influence on the rehabilitation within this selection of variables [25].

References

  1. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. Flex, E., Mangino, M., Mazzoli, M., Martini, A., Migliosi, V., Colosimo, A., Mingarelli, R., Pizzuti, A., Dallapiccola, B. J. Med. Genet. (2003) [Pubmed]
  2. An unusual case of pulsatile tinnitus and deafness. Thomas, B., Kesavadas, C. Neurology (2007) [Pubmed]
  3. Management of the acoustic neuroma in an only hearing ear. Pensak, M.L., Tew, J.M., Keith, R.W., Vanloveren, H.R. Skull base surgery (1991) [Pubmed]
  4. Clinical spectrum of Anderson Fabry disease in a Romanian family. Tudor, A., Muşat, A., Doscan, A., Bari, M., Zapucioiu, C., Urdea, E., Cochior, D., Peţa, D. Romanian journal of internal medicine = Revue roumaine de médecine interne (2006) [Pubmed]
  5. Vascular lesions of the internal auditory canal. Mahran, A., Samii, M., Penkert, G., Ostertag, H. Skull base surgery (1991) [Pubmed]
  6. Pure word deafness and pure anarthria in a patient with frontotemporal dementia. Iizuka, O., Suzuki, K., Endo, K., Fujii, T., Mori, E. Eur. J. Neurol. (2007) [Pubmed]
  7. Salicylate poisoning: an evidence-based consensus guideline for out-of-hospital management. Chyka, P.A., Erdman, A.R., Christianson, G., Wax, P.M., Booze, L.L., Manoguerra, A.S., Caravati, E.M., Nelson, L.S., Olson, K.R., Cobaugh, D.J., Scharman, E.J., Woolf, A.D., Troutman, W.G. Clinical toxicology (Philadelphia, Pa.) (2007) [Pubmed]
  8. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. Tzschach, A., Menzel, C., Erdogan, F., Schubert, M., Hoeltzenbein, M., Barbi, G., Petzenhauser, C., Ropers, H.H., Ullmann, R., Kalscheuer, V. Am. J. Med. Genet. A (2007) [Pubmed]
  9. A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness. Ficarella, R., Di Leva, F., Bortolozzi, M., Ortolano, S., Donaudy, F., Petrillo, M., Melchionda, S., Lelli, A., Domi, T., Fedrizzi, L., Lim, D., Shull, G.E., Gasparini, P., Brini, M., Mammano, F., Carafoli, E. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  10. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Ahmad, S., Tang, W., Chang, Q., Qu, Y., Hibshman, J., Li, Y., Söhl, G., Willecke, K., Chen, P., Lin, X. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  11. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Ali, A., Christie, P.T., Grigorieva, I.V., Harding, B., Van Esch, H., Ahmed, S.F., Bitner-Glindzicz, M., Blind, E., Bloch, C., Christin, P., Clayton, P., Gecz, J., Gilbert-Dussardier, B., Guillen-Navarro, E., Hackett, A., Halac, I., Hendy, G.N., Lalloo, F., Mache, C.J., Mughal, Z., Ong, A.C., Rinat, C., Shaw, N., Smithson, S.F., Tolmie, J., Weill, J., Nesbit, M.A., Thakker, R.V. Hum. Mol. Genet. (2007) [Pubmed]
  12. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Khan, S.Y., Riazuddin, S., Tariq, M., Anwar, S., Shabbir, M.I., Riazuddin, S.A., Khan, S.N., Husnain, T., Ahmed, Z.M., Friedman, T.B., Riazuddin, S. Hum. Genet. (2007) [Pubmed]
  13. A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Burton, S.K., Withrow, K., Arnos, K.S., Kalfoglou, A.L., Pandya, A. Genet. Med. (2006) [Pubmed]
  14. Unitary permeability of gap junction channels to second messengers measured by FRET microscopy. Hernandez, V.H., Bortolozzi, M., Pertegato, V., Beltramello, M., Giarin, M., Zaccolo, M., Pantano, S., Mammano, F. Nat. Methods (2007) [Pubmed]
  15. Phenotype-Genotype Correlations in Otosclerosis: Clinical Features of OTSC2. Declau, F., Van den Bogaert, K., Van De Heyning, P., Offeciers, E., Govaerts, P., Vancamp, G. Adv. Otorhinolaryngol. (2007) [Pubmed]
  16. Value of intraoperative brainstem auditory evoked potential monitoring in reducing the auditory morbidity associated with microvascular decompression of cranial nerves. Wilkins, R.H., Radtke, R.A., Erwin, C.W. Skull base surgery (1991) [Pubmed]
  17. Prevention and cure of rhinogenous deafness at the Thermal Baths "Bagni delle Galleraie". Tozzi, A., Blancasio, A.C., Basagni, C., Ricci, C., Burzynska, J., Battaglia, M.A. Journal of preventive medicine and hygiene (2006) [Pubmed]
  18. Studying the etiology of deafness in the "deaf" schools of Alexandria. Tantawy, A.Z., Sobhy, O., Al-Farargy, M., Shafik, M. The Journal of the Egyptian Public Health Association (1998) [Pubmed]
  19. SLC26A4 mutations are associated with a specific inner ear malformation. Fitoz, S., Sennaroğlu, L., Incesulu, A., Cengiz, F.B., Koç, Y., Tekin, M. Int. J. Pediatr. Otorhinolaryngol. (2007) [Pubmed]
  20. Physical characteristics of various lasers used in stapes surgery. Frenz, M. Adv. Otorhinolaryngol. (2007) [Pubmed]
  21. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Martinez-Glez, V., Lorda-Sanchez, I., Ramirez, J.M., Ruiz-Barnes, P., Rodriguez de Alba, M., Diego-Alvarez, D., Ramos, C., Searby, C.C., Nishimura, D.Y., Ayuso, C. European journal of medical genetics (2007) [Pubmed]
  22. Bone-anchored hearing AIDS: incidence and management of postoperative complications. House, J.W., Kutz, J.W. Otol. Neurotol. (2007) [Pubmed]
  23. Cochlear implantation in otosclerotic deafness. Ramsden, R., Rotteveel, L., Proops, D., Saeed, S., van Olphen, A., Mylanus, E. Adv. Otorhinolaryngol. (2007) [Pubmed]
  24. Is there a link between hearing aid use, employment, and income? Winn, S. American annals of the deaf (2006) [Pubmed]
  25. Relationship between intraoperative eCAP thresholds and postoperative psychoacoustic levels as a prognostic tool in evaluating the rehabilitation of cochlear implantees. Basta, D., Dahme, A., Todt, I., Ernst, A. Audiol. Neurootol. (2007) [Pubmed]
 
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