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

doi:10.1038/sj.ejhg.5200567

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

Eur J Hum Genet. 2000 Dec;8(12):991-3. doi: 10.1038/sj.ejhg.5200567.

Authors

L J Pulleyn¹, A P Jackson, E Roberts, A Carridice, C Muxworthy, M Houseman, L I Al-Gazali, N J Lench, A F Markham, R F Mueller

Affiliation

¹ Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.

PMID: 11175289
DOI: 10.1038/sj.ejhg.5200567

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Mapping
Chromosomes, Human, Pair 2*
Consanguinity
Female
Hearing Loss, Sensorineural / genetics*
Homozygote
Humans
Male
Pedigree