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Gene Review

DFNB27  -  deafness, autosomal recessive 27

Homo sapiens

 
 
 
 
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Disease relevance of DFNB27

  • 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 [1].
 

High impact information on DFNB27

  • We have used autozygosity mapping in a large consanguineous United Arab Emirate family to identify a novel locus for autosomal recessive non-syndromic sensorineural deafness, DFNB27, on chromosome 2q23-q31, with a maximum two-point lod score of 5.18 at theta = 0 for marker D2S2257 [1].
 

Biological context of DFNB27

References

  1. 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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