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

(2001) JOURNAL OF MEDICAL GENETICS. 38(8). p.515-518
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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.
Keywords
GJB2, connexin 26, 35delG, founder effect, AUTOSOMAL-RECESSIVE DEAFNESS, SENSORINEURAL DEAFNESS, CHILDHOOD DEAFNESS, EUROPEAN POPULATIONS, CARRIER FREQUENCY, UNITED-STATES, DFNB1, JAPANESE, FAMILIES, FORM

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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.
@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},
}

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