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

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 journal › Article › peer-review

17 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 language	English
Pages (from-to)	991-993
Number of pages	3
Journal	European Journal of Human Genetics
Volume	8
Issue number	12
DOIs	https://doi.org/10.1038/sj.ejhg.5200567
Publication status	Published - 2000

Keywords

Autozygosity mapping
Chromosome 2q
DFNA16
DFNB27
Heterogeneity
Homozygosity mapping
Locus

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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@article{26eaffed69944bd4986e6b543bd0d48b,

title = "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 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.",

keywords = "Autozygosity mapping, Chromosome 2q, DFNA16, DFNB27, Heterogeneity, Homozygosity mapping, Locus",

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

note = "Funding Information: This work was supported by funding from the National Lotteries Charities Board through Defeating Deafness, the European Community through Framework V, the Wellcome Trust, the Medical Research Council, Action Research and the West Riding Medical Research Trust.",

year = "2000",

doi = "10.1038/sj.ejhg.5200567",

language = "English",

volume = "8",

pages = "991--993",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "12",

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T1 - A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

AU - Pulleyn, L. J.

AU - Jackson, A. P.

AU - Roberts, E.

AU - Carridice, A.

AU - Muxworthy, C.

AU - Houseman, M.

AU - Al-Gazali, L. I.

AU - Lench, N. J.

AU - Markham, A. F.

AU - Mueller, R. F.

N1 - Funding Information: This work was supported by funding from the National Lotteries Charities Board through Defeating Deafness, the European Community through Framework V, the Wellcome Trust, the Medical Research Council, Action Research and the West Riding Medical Research Trust.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Autozygosity mapping

KW - Chromosome 2q

KW - DFNA16

KW - DFNB27

KW - Heterogeneity

KW - Homozygosity mapping

KW - Locus

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

Abstract

Keywords

ASJC Scopus subject areas

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