Journal article
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
Journal of medical genetics, Vol.38(8), pp.515-518
08/2001
DOI: 10.1136/jmg.38.8.515
PMCID: PMC1734914
PMID: 11483639
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:
connexin 26;
GJB2
; 35delG; founder effect
Details
- Title: Subtitle
- A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
- Creators
- L Van Laer - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumP Coucke - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumR Mueller - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumG Caethoven - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumK Flothmann - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumS Prasad - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumG Chamberlin - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumM Houseman - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumG Taylor - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumC M Van de Heyning - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumE Fransen - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumJ Rowland - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumR Cucci - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumR Smith - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, BelgiumG Van Camp - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- Journal of medical genetics, Vol.38(8), pp.515-518
- DOI
- 10.1136/jmg.38.8.515
- PMID
- 11483639
- PMCID
- PMC1734914
- NLM abbreviation
- J Med Genet
- ISSN
- 0022-2593
- eISSN
- 1468-6244
- Publisher
- BMJ Group
- Language
- English
- Date published
- 08/2001
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984007175802771
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