A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.
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.
Pulleyn
L J
LJ
Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
Jackson
A P
AP
Roberts
E
E
Carridice
A
A
Muxworthy
C
C
Houseman
M
M
Al-Gazali
L I
LI
Lench
N J
NJ
Markham
A F
AF
Mueller
R F
RF
D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree