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Gene Review: 

DFNA16  -  deafness, autosomal dominant 16

Homo sapiens

 
 
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Disease relevance of DFNA16

  • The sixteenth gene to cause autosomal dominant nonsyndromic hearing loss (ADNSHL), DFNA16, maps to chromosome 2q23-24.3 and is tightly linked to markers in the D2S2380-D2S335 interval [1].
 

High impact information on DFNA16

  • DFNA16 is unique in that it results in the only form of ADNSHL in which the phenotype includes rapidly progressing and fluctuating hearing loss that appears to respond to steroid therapy [1].
  • Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus [2].
  • After showing that SCN2A is expressed in human fetal cochlea, we determined its genomic structure to facilitate mutation screening in our DFNA16 kindred [2].
  • The DFNB27 locus extends over a 17 cM region between D2S2157 and D2S2273, and may overlap the DFNA16 locus for dominantly inherited, fluctuating, progressive non-syndromal hearing loss [3].
  • However, genotype data suggests that the locus is likely to be refined to between D2S326 and D2S2273 and thus distinct from the DFNA16 locus [3].
 

Biological context of DFNA16

References

  1. A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. Fukushima, K., Kasai, N., Ueki, Y., Nishizaki, K., Sugata, K., Hirakawa, S., Masuda, A., Gunduz, M., Ninomiya, Y., Masuda, Y., Sato, M., McGuirt, W.T., Coucke, P., Van Camp, G., Smith, R.J. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. Kasai, N., Fukushima, K., Ueki, Y., Prasad, S., Nosakowski, J., Sugata, K., Sugata, A., Nishizaki, K., Meyer, N.C., Smith, R.J. Gene (2001) [Pubmed]
  3. A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31. Pulleyn, L.J., Jackson, A.P., Roberts, E., Carridice, A., Muxworthy, C., Houseman, M., Al-Gazali, L.I., Lench, N.J., Markham, A.F., Mueller, R.F. Eur. J. Hum. Genet. (2000) [Pubmed]
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