A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

L. J. Pulleyn, A. P. Jackson, E. Roberts, A. Carridice, C. Muxworthy, M. Houseman, L. I. Al-Gazali, N. J. Lench, A. F. Markham, R. F. Mueller

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)

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 DFNA 16 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 DFNA 16 locus.

Original languageEnglish
Pages (from-to)991-993
Number of pages3
JournalEuropean Journal of Human Genetics
Volume8
Issue number12
DOIs
Publication statusPublished - 2000

Keywords

  • Autozygosity mapping
  • Chromosome 2q
  • DFNA16
  • DFNB27
  • Heterogeneity
  • Homozygosity mapping
  • Locus

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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