Abstract
Non-syndromic sensorineural deafness is an extremely genetically heterogeneous condition. 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 θ = 0 for marker D2S2257. 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. However, genotype data suggests that the locus is likely to be refined to between D2S326 and D2S2273 and thus distinct from the DFNA16 locus.
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Pulleyn, L., Jackson, A., Roberts, E. et al. A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31. Eur J Hum Genet 8, 991–993 (2000). https://doi.org/10.1038/sj.ejhg.5200567
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DOI: https://doi.org/10.1038/sj.ejhg.5200567
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