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Gene Review

DFNA40  -  deafness, autosomal dominant 40

Homo sapiens

 
 
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Disease relevance of DFNA40

 

Psychiatry related information on DFNA40

 

High impact information on DFNA40

 

Chemical compound and disease context of DFNA40

  • Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment (MIM 249270) [16].
  • Patients with a nonsense mutation in CD151 display end-stage kidney failure associated with regional skin blistering and sensorineural deafness, and mice lacking the integrin alpha3 subunit die neonatally because of severe abnormalities in the lung and kidney epithelia [17].
  • The objective of this study was to determine whether a mitochondrial DNA mutation and defective oxidative phosphorylation are present in a pedigree with maternally inherited sensorineural deafness, levodopa-responsive parkinsonism, and neuropathy [18].
  • Pendred's syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter, and impaired iodide organification [19].
  • The affected subject was a 22-yr-old man with a history of myoclonic epilepsy and mild sensorineural hearing loss, a 1-yr duration of diabetes mellitus, and a low level C peptide response to oral glucose [20].
 

Biological context of DFNA40

 

Anatomical context of DFNA40

 

Associations of DFNA40 with chemical compounds

  • As compared with those who received placebo, the patients who received dexamethasone became afebrile earlier (1.6 vs. 5.0 days; P less than 0.001) and were less likely to acquire moderate or more severe bilateral sensorineural hearing loss (15.5 vs. 3.3 percent; P less than 0.01) [31].
  • Pharmacological doses of thiamine correct the anaemia, and in some cases improve the diabetes, although progressive sensorineural deafness is irreversible [32].
  • Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit [33].
  • Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss [34].
  • Steroid-responsive postinfectious sensorineural hearing loss [35].
 

Physical interactions of DFNA40

 

Other interactions of DFNA40

 

Analytical, diagnostic and therapeutic context of DFNA40

References

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  2. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Diaz, G.A., Banikazemi, M., Oishi, K., Desnick, R.J., Gelb, B.D. Nat. Genet. (1999) [Pubmed]
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  11. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Delmaghani, S., del Castillo, F.J., Michel, V., Leibovici, M., Aghaie, A., Ron, U., Van Laer, L., Ben-Tal, N., Van Camp, G., Weil, D., Langa, F., Lathrop, M., Avan, P., Petit, C. Nat. Genet. (2006) [Pubmed]
  12. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Schönberger, J., Wang, L., Shin, J.T., Kim, S.D., Depreux, F.F., Zhu, H., Zon, L., Pizard, A., Kim, J.B., Macrae, C.A., Mungall, A.J., Seidman, J.G., Seidman, C.E. Nat. Genet. (2005) [Pubmed]
  13. Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Xiao, S., Yu, C., Chou, X., Yuan, W., Wang, Y., Bu, L., Fu, G., Qian, M., Yang, J., Shi, Y., Hu, L., Han, B., Wang, Z., Huang, W., Liu, J., Chen, Z., Zhao, G., Kong, X. Nat. Genet. (2001) [Pubmed]
  14. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Grewal, P.K., Holzfeind, P.J., Bittner, R.E., Hewitt, J.E. Nat. Genet. (2001) [Pubmed]
  15. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Verpy, E., Masmoudi, S., Zwaenepoel, I., Leibovici, M., Hutchin, T.P., Del Castillo, I., Nouaille, S., Blanchard, S., Lainé, S., Popot, J.L., Moreno, F., Mueller, R.F., Petit, C. Nat. Genet. (2001) [Pubmed]
  16. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Labay, V., Raz, T., Baron, D., Mandel, H., Williams, H., Barrett, T., Szargel, R., McDonald, L., Shalata, A., Nosaka, K., Gregory, S., Cohen, N. Nat. Genet. (1999) [Pubmed]
  17. Kidney failure in mice lacking the tetraspanin CD151. Sachs, N., Kreft, M., van den Bergh Weerman, M.A., Beynon, A.J., Peters, T.A., Weening, J.J., Sonnenberg, A. J. Cell Biol. (2006) [Pubmed]
  18. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Thyagarajan, D., Bressman, S., Bruno, C., Przedborski, S., Shanske, S., Lynch, T., Fahn, S., DiMauro, S. Ann. Neurol. (2000) [Pubmed]
  19. Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux. Gillam, M.P., Sidhaye, A.R., Lee, E.J., Rutishauser, J., Stephan, C.W., Kopp, P. J. Biol. Chem. (2004) [Pubmed]
  20. Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea. Lee, H.C., Song, Y.D., Li, H.R., Park, J.O., Suh, H.C., Lee, E., Lim, S., Kim, K., Huh, K. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  21. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Jin, H., May, M., Tranebjaerg, L., Kendall, E., Fontán, G., Jackson, J., Subramony, S.H., Arena, F., Lubs, H., Smith, S., Stevenson, R., Schwartz, C., Vetrie, D. Nat. Genet. (1996) [Pubmed]
  22. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Eudy, J.D., Weston, M.D., Yao, S., Hoover, D.M., Rehm, H.L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J.J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C.B., Beisel, K.W., Tamayo, M., Morton, C.C., Swaroop, A., Kimberling, W.J., Sumegi, J. Science (1998) [Pubmed]
  23. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Wang, A., Liang, Y., Fridell, R.A., Probst, F.J., Wilcox, E.R., Touchman, J.W., Morton, C.C., Morell, R.J., Noben-Trauth, K., Camper, S.A., Friedman, T.B. Science (1998) [Pubmed]
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  25. 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]
  26. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). McGuirt, W.T., Prasad, S.D., Griffith, A.J., Kunst, H.P., Green, G.E., Shpargel, K.B., Runge, C., Huybrechts, C., Mueller, R.F., Lynch, E., King, M.C., Brunner, H.G., Cremers, C.W., Takanosu, M., Li, S.W., Arita, M., Mayne, R., Prockop, D.J., Van Camp, G., Smith, R.J. Nat. Genet. (1999) [Pubmed]
  27. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Karet, F.E., Finberg, K.E., Nelson, R.D., Nayir, A., Mocan, H., Sanjad, S.A., Rodriguez-Soriano, J., Santos, F., Cremers, C.W., Di Pietro, A., Hoffbrand, B.I., Winiarski, J., Bakkaloglu, A., Ozen, S., Dusunsel, R., Goodyer, P., Hulton, S.A., Wu, D.K., Skvorak, A.B., Morton, C.C., Cunningham, M.J., Jha, V., Lifton, R.P. Nat. Genet. (1999) [Pubmed]
  28. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Coyle, B., Coffey, R., Armour, J.A., Gausden, E., Hochberg, Z., Grossman, A., Britton, K., Pembrey, M., Reardon, W., Trembath, R. Nat. Genet. (1996) [Pubmed]
  29. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Kelsell, D.P., Dunlop, J., Stevens, H.P., Lench, N.J., Liang, J.N., Parry, G., Mueller, R.F., Leigh, I.M. Nature (1997) [Pubmed]
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  32. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Fleming, J.C., Tartaglini, E., Steinkamp, M.P., Schorderet, D.F., Cohen, N., Neufeld, E.J. Nat. Genet. (1999) [Pubmed]
  33. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Annunen, S., Körkkö, J., Czarny, M., Warman, M.L., Brunner, H.G., Kääriäinen, H., Mulliken, J.B., Tranebjaerg, L., Brooks, D.G., Cox, G.F., Cruysberg, J.R., Curtis, M.A., Davenport, S.L., Friedrich, C.A., Kaitila, I., Krawczynski, M.R., Latos-Bielenska, A., Mukai, S., Olsen, B.R., Shinno, N., Somer, M., Vikkula, M., Zlotogora, J., Prockop, D.J., Ala-Kokko, L. Am. J. Hum. Genet. (1999) [Pubmed]
  34. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Bespalova, I.N., Van Camp, G., Bom, S.J., Brown, D.J., Cryns, K., DeWan, A.T., Erson, A.E., Flothmann, K., Kunst, H.P., Kurnool, P., Sivakumaran, T.A., Cremers, C.W., Leal, S.M., Burmeister, M., Lesperance, M.M. Hum. Mol. Genet. (2001) [Pubmed]
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  36. Antimeasles immunoglobulin g for serologic diagnosis of otosclerotic hearing loss. Karosi, T., Kónya, J., Petkó, M., Szabó, L.Z., Pytel, J., Jóri, J., Sziklai, I. Laryngoscope (2006) [Pubmed]
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  43. Correlation between antibodies to type II collagen and treatment outcome in bilateral progressive sensorineural hearing loss. Helfgott, S.M., Mosciscki, R.A., San Martin, J., Lorenzo, C., Kieval, R., McKenna, M., Nadol, J., Trentham, D.E. Lancet (1991) [Pubmed]
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