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

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 theta = 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.

• Authors: 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
• Journal: European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 8 Issue 12 Pg. 991-3 (Dec 2000) ISSN: 1018-4813 [Print] England
• PMID: 11175289 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 2
• Consanguinity
• Female
• Hearing Loss, Sensorineural (genetics)
• Homozygote
• Humans
• Male
• Pedigree