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

2000; Springer Nature; Volume: 8; Issue: 1 Linguagem: Inglês

10.1038/sj.ejhg.5200406

1476-5438

Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, M B Petersen, Karen Brøndum‐Nielsen, Andres Metspalu, Eneli Oitmaa, Marina Pisano, Paolo Fortina, L. Zelante, Xavier Estivill,

Vestibular and auditory disorders

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.