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

Journal of Medical Genetics

Volumn 38, Issue 8, 2001, Pages 515-518

  Van Laer, L ^a   Coucke, P ^a   Mueller, R F ^b   Caethoven, G ^a   Flothmann, K ^a   Prasad, S D ^c   Chamberlin, G P ^c   Houseman, M ^b   Taylor, G R ^b   Van de Heyning, C M ^a   Fransen, E ^a   Rowland, J ^b   Cucci, R A ^c   Smith, R J H ^c   Van Camp, G ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

35delG; Connexin 26; Founder effect; GJB2

Indexed keywords

CONNEXIN 26;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; ENDOLYMPH; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0034881345     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.8.515     Document Type: Article

References (30)

1. Genetic epidemiology of hearing impairment
2. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
3. Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families
4. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
5. Connexin 26 gene linked to a dominant deafness
6. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
7. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
8. Cx26 deafness: Mutation analysis and clinical variability
9. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
10. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
11. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
12. Connexin-26 mutations in sporadic and inherited sensorineural deafness
13. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
14. Prevalent connexin 26 gene (GJB2) mutations in Japanese
15. Connexin 26 mutations associated with nonsyndromic hearing loss
16. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
17. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
18. High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
19. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
20. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
21. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)
22. High carrier frequency of the 35delG deafness mutation in European populations
23. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
24. PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France
25. High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness
26. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
27. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
28. The origin of the major cystic fibrosis mutation (delta F508) in European populations
29. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
30. Why is the cystic fibrosis gene so frequent?