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A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

Lut Van Laer UGent, Paul Coucke UGent, RF Mueller, G Caethoven, K Flothmann, SD Prasad, GP Chamberlin, M Houseman, GR Taylor, CM Van de Heyning, et al. (2001) JOURNAL OF MEDICAL GENETICS. 38(8). p.515-518
abstract
Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational hot spot in GJB2, which was the prevailing hypothesis. Patients homozygous for the 35delG mutation and normal hearing controls originating from Belgium, the UK, and the USA were genotyped for different single nucleotide polymorphisms (SNPs). Four SNPs mapped in the immediate vicinity of GJB2, while two were positioned up to 76 kb from it. Significant differences between the genotypes of patients and controls for the five SNPs closest to GJB2 were found, with nearly complete association of one SNP allele with the 35delG mutation. For the most remote SNP, we could not detect any association. We conclude that the 35delG mutation is derived from a common, albeit ancient founder.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GJB2, connexin 26, 35delG, founder effect, AUTOSOMAL-RECESSIVE DEAFNESS, SENSORINEURAL DEAFNESS, CHILDHOOD DEAFNESS, EUROPEAN POPULATIONS, CARRIER FREQUENCY, UNITED-STATES, DFNB1, JAPANESE, FAMILIES, FORM
journal title
JOURNAL OF MEDICAL GENETICS
J. Med. Genet.
volume
38
issue
8
pages
515 - 518
Web of Science type
Article
Web of Science id
000170405200003
JCR category
GENETICS & HEREDITY
JCR impact factor
5.098 (2001)
JCR rank
18/112 (2001)
JCR quartile
1 (2001)
ISSN
0022-2593
DOI
10.1136/jmg.38.8.515
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
141246
handle
http://hdl.handle.net/1854/LU-141246
date created
2004-01-14 13:37:00
date last changed
2016-12-19 15:38:06
@article{141246,
  abstract     = {Fifty to eighty percent of autosomal recessive congenital severe to profound hearing impairment result from mutations in a single gene, GJB2, that encodes the protein connexin 26. One mutation of this gene, the 35delG allele, is particularly common in white populations. We report evidence that the high frequency of this allelic variant is the result of a founder effect rather than a mutational hot spot in GJB2, which was the prevailing hypothesis. Patients homozygous for the 35delG mutation and normal hearing controls originating from Belgium, the UK, and the USA were genotyped for different single nucleotide polymorphisms (SNPs). Four SNPs mapped in the immediate vicinity of GJB2, while two were positioned up to 76 kb from it. Significant differences between the genotypes of patients and controls for the five SNPs closest to GJB2 were found, with nearly complete association of one SNP allele with the 35delG mutation. For the most remote SNP, we could not detect any association. We conclude that the 35delG mutation is derived from a common, albeit ancient founder.},
  author       = {Van Laer, Lut and Coucke, Paul and Mueller, RF and Caethoven, G and Flothmann, K and Prasad, SD and Chamberlin, GP and Houseman, M and Taylor, GR and Van de Heyning, CM and Fransen, E and Rowland, J and Cucci, RA and Smith, RJH and Van Camp, G},
  issn         = {0022-2593},
  journal      = {JOURNAL OF MEDICAL GENETICS},
  keyword      = {GJB2,connexin 26,35delG,founder effect,AUTOSOMAL-RECESSIVE DEAFNESS,SENSORINEURAL DEAFNESS,CHILDHOOD DEAFNESS,EUROPEAN POPULATIONS,CARRIER FREQUENCY,UNITED-STATES,DFNB1,JAPANESE,FAMILIES,FORM},
  language     = {eng},
  number       = {8},
  pages        = {515--518},
  title        = {A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment},
  url          = {http://dx.doi.org/10.1136/jmg.38.8.515},
  volume       = {38},
  year         = {2001},
}

Chicago
Van Laer, Lut, Paul Coucke, RF Mueller, G Caethoven, K Flothmann, SD Prasad, GP Chamberlin, et al. 2001. “A Common Founder for the 35delG GJB2 Gene Mutation in Connexin 26 Hearing Impairment.” Journal of Medical Genetics 38 (8): 515–518.
APA
Van Laer, Lut, Coucke, P., Mueller, R., Caethoven, G., Flothmann, K., Prasad, S., Chamberlin, G., et al. (2001). A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. JOURNAL OF MEDICAL GENETICS, 38(8), 515–518.
Vancouver
1.
Van Laer L, Coucke P, Mueller R, Caethoven G, Flothmann K, Prasad S, et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. JOURNAL OF MEDICAL GENETICS. 2001;38(8):515–8.
MLA
Van Laer, Lut, Paul Coucke, RF Mueller, et al. “A Common Founder for the 35delG GJB2 Gene Mutation in Connexin 26 Hearing Impairment.” JOURNAL OF MEDICAL GENETICS 38.8 (2001): 515–518. Print.