High carrier frequency of the 35delG deafness mutation in European populations

Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, Michael Petersen, Karen Brøndum-Nielsen, Andres Metspalu, Eneli Oitmaa, Marina Pisano, Paolo Fortina, Leopoldo Zelante, Xavier Estivill

Research output: Contribution to journalArticle

315 Citations (Scopus)

Abstract

Congenital deafness accounts for about 1 in 1000 infants and approximately 80% of cases are inherited as an autosomal recessive trait. Recently, it has been demonstrated that connexin 26 (GJB2) gene is a major gene for congenital sensorineural deafness. A single mutation (named 35delG) was found in most recessive families and sporadic cases of congenital deafness, among Caucasoids, with relative frequencies ranging from 28% to 63%. We present here the analysis of the 35delG mutation in 3270 random controls from 17 European countries. We have detected a carrier frequency for 35delG of 1 in 35 in southern Europe and 1 in 79 in central and northern Europe. In addition, 35delG was detected in five out of 376 Jewish subjects of different origin, but was absent in other non-European populations. The study suggests either a single origin for 35delG somewhere in Europe or in the Middle East, and the possible presence of a carrier advantage together with a founder effect. The 35delG carrier frequency of 1 in 51 in the overall European population clearly indicates that this genetic alteration is a major mutation for autosomal recessive deafness in Caucasoids. This finding should facilitate diagnosis of congenital deafness and allow early treatment of the affected subjects.

Original languageEnglish
Pages (from-to)19-23
Number of pages5
JournalEuropean Journal of Human Genetics
Volume8
Issue number1
DOIs
Publication statusPublished - Jan 2000

Fingerprint

Deafness
Mutation
Population
Founder Effect
Middle East
Genes
Therapeutics

Keywords

  • 35delG
  • Carrier frequency
  • Genetic deafness
  • GJB2

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Gasparini, P., Rabionet, R., Barbujani, G., Melchionda, S., Petersen, M., Brøndum-Nielsen, K., ... Estivill, X. (2000). High carrier frequency of the 35delG deafness mutation in European populations. European Journal of Human Genetics, 8(1), 19-23. https://doi.org/10.1038/sj.ejhg.5200406

High carrier frequency of the 35delG deafness mutation in European populations. / Gasparini, Paolo; Rabionet, Raquel; Barbujani, Guido; Melchionda, Salvatore; Petersen, Michael; Brøndum-Nielsen, Karen; Metspalu, Andres; Oitmaa, Eneli; Pisano, Marina; Fortina, Paolo; Zelante, Leopoldo; Estivill, Xavier.

In: European Journal of Human Genetics, Vol. 8, No. 1, 01.2000, p. 19-23.

Research output: Contribution to journalArticle

Gasparini, P, Rabionet, R, Barbujani, G, Melchionda, S, Petersen, M, Brøndum-Nielsen, K, Metspalu, A, Oitmaa, E, Pisano, M, Fortina, P, Zelante, L & Estivill, X 2000, 'High carrier frequency of the 35delG deafness mutation in European populations', European Journal of Human Genetics, vol. 8, no. 1, pp. 19-23. https://doi.org/10.1038/sj.ejhg.5200406
Gasparini, Paolo ; Rabionet, Raquel ; Barbujani, Guido ; Melchionda, Salvatore ; Petersen, Michael ; Brøndum-Nielsen, Karen ; Metspalu, Andres ; Oitmaa, Eneli ; Pisano, Marina ; Fortina, Paolo ; Zelante, Leopoldo ; Estivill, Xavier. / High carrier frequency of the 35delG deafness mutation in European populations. In: European Journal of Human Genetics. 2000 ; Vol. 8, No. 1. pp. 19-23.
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