Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.
OBJECTIVE
To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients.


METHODS
502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of "Hereditary Hearing-loss" in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss.


RESULTS
Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03-3.68) and 1 homozygous (95% Confidence Interval 0.01-1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03-3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11-12.8) were heterozygous and 7 (95% Confidence Interval 3.61-15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13-8.31) and 2 homozygous (95% Confidence Interval 0.13-8.31).


CONCLUSIONS
The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss.
Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal. Electronic address: mariana.doria.ps@gmail.com.
Mariana
M
Dória
Department of Human Genetics, Faculty of Medicine, University of Porto, Centro Hospitalar São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; Institute for Research and Innovation in Health/Instituto de Investigação e Inovação em Saúde, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
Ana Paula
AP
Neto
Department of Clinical Epidemiology, Predictive Medicine and Public Health, Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; EPI Unit-Institute of Public Health, University of Porto, Rua das Taipas no. 135, 4050-600 Porto, Portugal.
Ana Cristina
AC
Santos
Department of Clinical Epidemiology, Predictive Medicine and Public Health, Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; EPI Unit-Institute of Public Health, University of Porto, Rua das Taipas no. 135, 4050-600 Porto, Portugal.
Henrique
H
Barros
Department of Human Genetics, Faculty of Medicine, University of Porto, Centro Hospitalar São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; Institute for Research and Innovation in Health/Instituto de Investigação e Inovação em Saúde, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
Susana
S
Fernandes
Department of Human Genetics, Faculty of Medicine, University of Porto, Centro Hospitalar São João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; Institute for Research and Innovation in Health/Instituto de Investigação e Inovação em Saúde, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; Department of Otorhinolaryngology, Centro Hospitalar São João, Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.
Carla Pinto
CP
Moura
D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D011174:Portugal; D015995:Prevalence
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
35delG variant; Frequency; GJB2 gene; Hearing-loss; Met34Thr variant; Portuguese sample