[Adaptation and Validation for European Portuguese of the Auditory Performance Categories-II and Infant-Toddler Meaningful Auditory Integration Scale for Children with Cochlear Implant]. / Adaptação e Validação para Português Europeu das Escalas Categories Auditory Performance-II e Infant-Toddler Meaningful Auditory Integration Scale em Crianças com Implante Coclear.

INTRODUCTION: The Categories of Auditory Performance II (CAP-II) scale and the Infant-Toddler Meaningful Audit Integration Scale (IT-MAIS) are simple and quick questionnaires that allow assessment of the auditory performance of children with cochlear implant (CI). The aim of this study was to translate, adapt and validate the European Portuguese version of the CAP-II and IT-MAIS scales. METHODS: A total of 85 participants completed the European Portuguese version of the CAP-II and IT-MAIS questionnaires, of which 45 were parents of children with pediatric cochlear implants (9.84 ± 4.22 years) and another 40 were parents of children with normal hearing (8.35 ± 3.56 years). Inter-rater reproducibility, test-retest reproducibility, comparison of study group versus control group results, internal consistency and correlation of the new scales were evaluated. RESULTS: The CAP-II and IT-MAIS scales showed high reliability and reproducibility, respectively, with an intraclass correlation coefficient (ICC) of 0.979 (p < 0.001) and a Spearman's correlation of 0.924 for the CAP-II scale, and an ICC of 0.932 (p < 0.001) and Spearman's correlation coefficient of 0.732 for the IT-MAIS scale. The IT-MAIS and CAP-II versions showed strong internal consistency (Cronbach's α coefficient value of 0.887 for the CAP-II scale and Spearman's positive correlation of 0.677 for the IT-MAIS scale, respectively) and allowed for the differentiation between children with normal hearing and post-implantation children (p = 0.001 and p < 0.001 respectively for each of the scales). There was no association between parental education and the results on the scales (p > 0.05). CONCLUSION: The findings demonstrated that the European Portuguese version of these scales is a valid and reliable tool for assessing auditory performance in European Portuguese-speaking children with hearing loss.

Introdução: As escalas Categories of Auditory Performance II (CAP-II) e Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS) são questionários simples e de rápida aplicação que permitem avaliar o desempenho auditivo de crianças com implante coclear (IC). O objetivo deste estudo foi a tradução, adaptação e validação da versão em português europeu das escalas CAP-II e IT-MAIS. Métodos: Um total de 85 participantes completaram a versão em português europeu dos questionários CAP-II e IT-MAIS, dos quais 45 eram pais de crianças com IC pediátrico (9,84 ± 4,22 anos) e outros 40 eram pais de crianças com audição normal (8,35 ± 3,56 anos). Foi avaliada a reprodutibilidade entre avaliadores, a reprodutibilidade teste-reteste, a comparação dos resultados do grupo de estudo versus grupo de controlo, a consistência interna e a correlação das novas escalas. Resultados: As escalas CAP-II e IT-MAIS apresentaram uma elevada confiabilidade e reprodutibilidade, respetivamente com coeficiente de correlação intraclasse (ICC) de 0,979 (p < 0,001) e correlação de Spearman de 0,924 para a escala CAP-II, e ICC de 0,932 (p < 0,001) e coeficiente de correlação de Spearman de 0,732 para a escala IT-MAIS. As versões do IT-MAIS e do CAP-II apresentaram uma forte consistência interna (valor do coeficiente α de Cronbach de 0,887 para a escala CAP-II e correlação positiva de Spearman de 0,677 para a escala IT-MAIS, respetivamente) e permitem diferenciar entre crianças com audição normal e crianças pós-implantação (p = 0,001 e p < 0,001 respetivamente para cada uma das escalas). Não se verificou existir associação estatisticamente significativa entre a escolaridade e o resultado nas escalas (p > 0,05). Conclusão: A versão em português europeu destas escalas demonstrou ser uma ferramenta válida e confiável na avaliação do desempenho auditivo em crianças falantes de português europeu com deficiência auditiva.

[Translation, Cultural Adaptation and Contributions to the Validation of the Nijmegen Cochlear Implant Questionnaire (NCIQ) for European Portuguese]. / Tradução, Adaptação Cultural e Contributos para a Validação da Escala Nijmegen Cochlear Implant Questionnaire (NCIQ) para o Português Europeu.

INTRODUCTION: The Nijmegen Cochlear Implant Questionnaire (NCIQ) scale uses a simple and easily administered questionnaire to evaluate the adaptation of individuals to their cochlear implants. The aim of this study was to validate the NCIQ for European Portuguese, through its translation and cultural adaptation. It also presents the evaluation of reproducibility and the description of the results of this questionnaire in patients using IC. MATERIAL AND METHODS: Fifty postlingually deaf adult multichannel cochlear implant users (uni- or bilateral) participated in the study. Participants used the cochlear implant for at least 12 months and were patients of the Department of Otolaryngology at the Egas Moniz Hospital in Lisbon. Permission, as well the guidelines for translation, were obtained from the authors of the scale. Translation and cultural adaptation were carried out, in addition to the evaluation of reproducibility and internal consistency. RESULTS: The participants were 44.0% male and 56.0% female, aged between 20 and 79 years (55.50 ± 15.69). The results of the study showed an overall level of satisfaction of 65.07 among cochlear implants users. The level of satisfaction of the subdomains was 64.40 in basic sound perception, 71.35 in advanced sound perception, 57.91 in speech production, 59.05 in self-esteem, 69.75 in activity and 68.50 in social functioning. Internal consistency (Cronbach α score = 0.96) and test-retest reliability coefficients proved to be strong. Furthermore, the questionnaire's overall and subdomains average scores did not differ significantly from the results obtained with the original scale. CONCLUSION: This adaptation of the NCIQ questionnaire for European Portuguese should be considered a good tool to evaluate the level of satisfaction of cochlear implant users and, so far, it is the only scale in this field validated for application in the Portuguese population.

Introdução: O questionário Nijmegen Cochlear Implant Questionnaire (NCIQ) consiste numa escala simples e de rápida aplicação para avaliar a satisfação dos indivíduos que utilizam implantes cocleares. O objetivo deste estudo foi a validação do NCIQ para o Português Europeu e avaliação da qualidade de vida em adultos utilizadores de implantes cocleares. Material e Métodos: Participaram no estudo 50 adultos utilizadores de implante coclear multicanal (uni ou bilateral), com surdez pós-lingual, no mínimo com 12 meses de uso, implantados e seguidos no serviço de Otorrinolaringologia do Hospital Egas Moniz em Lisboa. Foram pedidas a autorização e as normas para a tradução do questionário aos autores da escala e realizada a tradução e retroversão do questionário, a adaptação cultural, e a avaliação da reprodutibilidade e da consistência interna. Resultados: Os participantes eram 44,0% do género masculino e 56,0% do feminino, com idades compreendidas entre os 20 e os 79 anos (55,50 ± 15,69). Os resultados obtidos neste estudo demonstraram um nível de satisfação global de 65,07 nos utilizadores de implantes cocleares. O nível de satisfação dos subdomínios foi de 64,40 na perceção básica do som, 71,35 na perceção avançada do som, 57,91 na produção da fala, 59,05 na autoestima, 69,75 na atividade e 68,50 nas interações sociais. A versão traduzida do questionário NCIQ apresentou uma boa consistência interna para todos os domínios existentes no questionário (α de Cronbach = 0,96). Verificou-se também uma boa reprodutibilidade inter-pesquisadores. Para a pontuação global e das subescalas do questionário, os resultados médios obtidos demonstraram não haver diferenças significativas com a escala original. Conclusão: A adaptação do Nijmegen Cochlear Implant Questionnaire para Português Europeu deve ser considerada um bom instrumento para a avaliação da satisfação dos utilizadores de implantes cocleares e é, até ao momento, a única escala neste domínio validada para aplicação na população portuguesa.

Pars tensa and tympanicomalleal joint: proposal for a new anatomic classification.

PURPOSE: The tympanic membrane (TM) belongs to the ear. Despite its place in the ear anatomy, can we give it also a different anatomic classification? The main objective is to clarify the nature of TM, tympanic bone and malleus to propose a new anatomic classification. METHODS: This cadaveric study was performed in two human heads and six fresh temporal bones. A study of the temporomandibular joint, external acoustic meatus (EAM), TM and middle ear structures was conducted. A medical literature review englobing anatomy, embryology, histology and phylogeny of the ear was performed and the results were compared with the results of the dissection. RESULTS: The external ear is constituted by the auricle and the EAM. This last segment is made by a cartilaginous and an osseous portion. The osseous portion of the EAM is constituted mainly by tympanic bone. The external ear is separated from the middle ear by the TM. Inside the middle ear, there are three ossicles: malleus, incus and stapes, which allow the conduction of sound to the cochlea. Based on the anatomic dissection and medical literature review of the tympanic bone, malleus and TM, we propose that these structures are interconnected like a joint, and named it "Tympanicomalleal joint". CONCLUSIONS: It seems that the TM can be part of a joint that evolved to improve sound transmission and middle ear protection. Thinking TM has part of a joint may help in the development of more efficient reconstructive surgical techniques.

[Quality of Life of Children with Otitis Media and Impact of Insertion of Transtympanic Ventilation Tubes in a Portuguese Population]. / Qualidade de Vida das Crianças com Otite Média e Impacto da Colocação de Tubos de Ventilação Transtimpânicos numa População Portuguesa.

INTRODUCTION: Quality of life is an important measure for health-outcome evaluation. Although otitis media is one of the most common childhood diseases, its impact on Portuguese children's quality of life is unknown. The aim of this study is to determine the quality of life of Portuguese children with chronic otitis media with effusion and/or recurrent acute otitis media and the short-term impact of transtympanic ventilation tubes, using the Portuguese version of the OM-6 questionnaire, a valid, reliable and sensitive instrument to evaluate the health-related quality of life in children with otitis media. MATERIAL AND METHODS: This study was conducted in a tertiary referral center, to where children are referred from primary care and hospital pediatric consultations. The Portuguese version of the OM-6 questionnaire was applied to children with chronic otitis media with effusion and/or recurrent acute otitis media. The instrument was re-administered at two months postoperatively to a group of children who underwent tympanostomy tube placement, to evaluate the change in quality of life with the surgical procedure. RESULTS: The study involved a sample of 169 children, aged between 6 months and 12 years (mean: 4.20 ± 2.05 years). The average score in the survey was 3.3 ± 1.47, of a maximum of 7 (worst quality of life). The domains 'caregiver concerns', 'hearing loss' and 'physical suffering' had the highest scores. The domain 'hearing loss' was correlated with the domain 'speech impairment' (rs = 0.41; p < 0.001) and the domain 'physical suffering' correlated with the domain 'activity limitation' (rs = 0.47; p < 0.001). There was a correlation between the score on 'hearing loss' and the presence of conduction hearing loss (χ2 (6) = 24.662; p = 0.022). Children with chronic otitis media with effusion had lower scores on the domain 'physical suffering', while children with recurrent acute otitis media had lower scores in the domain 'hearing loss' and higher scores in the domain 'emotional distress'. There was an improvement in the quality of life in all the dimensions studied by the questionnaire after surgery. The improvement was large in 55%, moderate in 15% and small in 10% of the cases. The presence of otorrhea postoperatively did not decrease the quality of life improvement achieved with surgery. CONCLUSION: Otitis media has a negative impact on Portuguese children quality of life. Tympanostomy tubes improve quality of life related to the middle ear in most children. The application of validated disease-specific questionnaires allows an enhanced understanding of the impact of otitis media on Portuguese children quality of life and of the success of therapeutic measures.

Introdução: A qualidade de vida é uma medida importante de avaliação de resultados em saúde. Embora a otite média seja uma das doenças mais comuns na infância, o seu impacto na qualidade de vida das crianças portuguesas não é conhecido. O objetivo deste estudo é determinar a qualidade de vida das crianças portuguesas com otite média crónica com efusão e/ou otite média aguda recorrente e o impacto a curto-prazo da colocação de tubos de ventilação transtimpânicos, utilizando a versão portuguesa do questionário OM-6, um instrumento válido, confiável e sensível para avaliar a qualidade de vida relacionada com saúde em crianças com otite média. Material e Métodos: Este estudo foi realizado num hospital de nível terciário, para onde as crianças são referenciadas a partir dos cuidados de saúde primários e da consulta de pediatria hospitalar. O questionário OM-6 foi administrado em crianças com otite média crónica com efusão e/ou otite média aguda recorrente. O instrumento foi readministrado aos dois meses de pós-operatório a um grupo de crianças submetidas a colocação de tubos de ventilação transtimpânicos, para avaliar a alteração da qualidade de vida com o procedimento cirúrgico. Resultados: O estudo envolveu uma amostra de 169 crianças, com idades entre os 6 meses e os 12 anos (média: 4,20 ± 2,05 anos). A pontuação média no questionário foi de 3,3 ± 1,47, num máximo de 7 (pior qualidade de vida). Os domínios 'preocupações do cuidador', 'perda auditiva' e 'sofrimento físico' apresentaram as pontuações mais elevadas. O domínio 'perda auditiva' correlacionou-se com o domínio 'alterações da fala' (rs = 0,41; p < 0,001) e o domínio 'sofrimento físico' correlacionou-se com o domínio 'limitação da atividade' (rs = 0,47; p < 0,001). Observou-se correlação entre a pontuação no domínio 'perda auditiva' e a presença de hipoacusia de condução (χ2 (6) = 24,662; p = 0,022). Crianças com otite média crónica com efusão apresentaram pontuação mais baixa no domínio 'sofrimento físico', ao passo que crianças com otite média aguda recorrente apresentaram pontuação mais baixa no domínio 'perda auditiva' e pontuação mais alta no domínio 'sofrimento emocional'. Registou-se uma melhoria da qualidade vida em todas as dimensões estudadas pelo questionário após o procedimento cirúrgico. A melhoria foi considerada grande em 55%, moderada em 15% e pequena em 10% dos casos. A presença de otorreia no pós-operatório não mostrou comprometer a melhoria da qualidade de vida obtida com o procedimento cirúrgico. Conclusão: A otite média tem um impacto negativo na qualidade de vida das crianças portuguesas. A colocação de tubos de ventilação transtimpânicos melhora a qualidade de vida na maioria das crianças. A aplicação de questionários validados doença-específicos permite uma melhor compreensão do impacto que a otite média apresenta na qualidade de vida das crianças portuguesas e do sucesso do tratamento.

[Validation of the Otitis Media-6 Questionnaire for European Portuguese]. / Validação do Questionário Otitis Media-6 para Português Europeu.

INTRODUCTION: Otitis media is one of the most prevalent childhood diseases. The impact of otitis media on quality of life of Portuguese children is unknown, because of the unavailability of a tool validated in European Portuguese to assess this consequence of otitis media. The Otitis Media-6 questionnaire (Otitis Media-6) is the most frequently used tool to assess health-related quality of life in children with otitis media. This study aims to create a version in the Portuguese language and culturally adapted to Portugal of the otitis media-6 questionnaire. MATERIAL AND METHODS: The Otitis Media-6 questionnaire was translated and culturally adapted to the Portuguese language and population. Then, to assess the instrument psychometric properties, it was applied to a sample of Portuguese children with chronic otitis media with effusion or recurrent acute otitis media. RESULTS: The Portuguese version of Otitis Media-6 questionnaire demonstrated the following psychometric properties: construct validity for baseline (rs = 0.98) and change scores (rs = 0.97), internal consistency (α = 0.780), test-retest reliability (rs = 0.89) and responsiveness to clinical change (t(59) = 10.104). DISCUSSION: The simplicity and brevity of application of the instrument make it ideal for use in research and in clinical practice, enabling a more objective assessment of the extension of the otitis media impact in children quality of life and a more targeted therapeutic decision. CONCLUSION: The Portuguese version of the Otitis Media-6 questionnaire is a valid, reliable and sensitive instrument to evaluate the health-related quality of life in Portuguese children with otitis media.

Introdução: A otite média é uma das doenças mais prevalentes na infância. O impacto da otite média na qualidade de vida das crianças portuguesas não é conhecido, devido à indisponibilidade de um instrumento validado em português europeu capaz de avaliar esta consequência da otite média. O questionário Otitis Media-6 é o instrumento mais frequentemente usado para avaliar a qualidade de vida relacionada com a saúde em crianças com otite média. Este estudo tem como objetivo criar uma versão em língua portuguesa e culturalmente adaptada a Portugal do questionário Otitis Media-6. Material e Métodos: O questionário Otitis Media-6 foi traduzido e culturalmente adaptado à língua e à população portuguesa. Em seguida, para avaliar as propriedades psicométricas do instrumento, o mesmo foi aplicado a uma população de crianças portuguesas com otite média crónica com efusão ou otite média aguda recorrente. Resultados: A versão portuguesa do questionário Otitis Media-6 demonstrou as seguintes propriedades psicométricas: validade de construção para os scores basal (rs = 0,98) e de mudança (rs = 0,97), consistência interna (α = 0,780), confiança teste-reteste (rs = 0,89) e resposta a alteração clínica (t(59) = 10,104). Discussão: A simplicidade e brevidade de aplicação do instrumento tornam-no ideal para utilização em investigação e na prática clínica diária, possibilitando uma avaliação mais objetiva da extensão do impacto da otite média na qualidade de vida da criança e a tomada de decisões terapêuticas mais orientada.Conclusão: A versão portuguesa do questionário Otitis Media-6 é um instrumento válido, confiável e sensível para avaliação da qualidade de vida relacionada com a saúde em crianças portuguesas com otite média.

The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.

INTRODUCTION: Recent advances in molecular genetics have increased the identification of genes and mutations responsible for inherited forms of hearing loss (HL), enabling early detection of these cases. Approximately, 60% of early-onset HL cases are due to genetic causes, of which 70% are non-syndromic. Of these, 75-80% are inherited in an autosomal recessive pattern (DFNB). Mutations in GJB2 gene, coding for connexin 26 (Cx26), are the major cause of autosomal recessive hereditary HL, but some GJB2 mutations are yet of unclear or controversial significance. OBJECTIVES: The aim of the present study was to identify the etiology of hearing loss, and correlate genotype-phenotype, in two Portuguese siblings with profound and moderate non-syndromic sensorineural bilateral HL. MATERIAL AND METHODS: The affected subjects and their parents underwent audiological and genetic study. Molecular analysis of GJB2 gene was performed, searching for mutations in the coding region and receptor splicing site by automated sequencing. RESULTS: The onset and the degree of HL were different in the two affected subjects. However, the same GJB2 genotype [p.Met34Thr]+[p.Arg184Pro] was identified in both siblings. The c.551G>C (p.Arg184Pro) and c.101T>C (p.Met34Thr) missense variants were inherited from the father and mother, respectively, both heterozygous carriers of these variants. CONCLUSION: The clinical and genetic data here presented suggest that the non-syndromic sensorineural HL of these two Portuguese siblings might be due to the presence of p.Met34Thr and p.Arg184Pro variants in compound heterozygosity. If so, p.Met34Thr variant could have function as a hypomorphic allele that may cause HL depending on the opposing GJB2 allele. The observed phenotypic variability may not, however, be solely explained by variable expression of this genotype. A putative modifier gene or mutations in another HL-associated gene could probably be contributing to the severe HL in one of the siblings.

Improvement of the embalming perfusion method: the innovation and the results by light and scanning electron microscopy.

Embalming is a chemical process that aims the preservation and sanitization of the human body indefinitely. The technique of embalming is an important tool in teaching and research in anatomy enabling the preservation of cadaveric material in good conditions (lessening any significant structural changes and maintaining the natural appearance). This article presents the results of embalmed cadavers in the course of arterial perfusion, through the use of a perfusion machine, particularly designed to this objective, and which allows the control of the embalming fluid injection process. The influence of this technique and the optimization of its parameters on the final quality of embalming were evaluated by sequential histological analysis of the cadaveric tissues using an original method of classification of samples collected from 17 deceased corpses of the Corpses Donation Office of the Department of Anatomy of Faculdade de Ciências Médicas from Universidade Nova de Lisboa, subject to the embalming technique developed in the Department. We concluded that, with this method, there is a decrease of the decomposition process at the time of embalming, which is effective at long term (over a year), requiring merely the maintenance of the body at low temperatures (4° C) and it is possible to observe that the tissue best preserved over time is muscle, showing a conservation considered optimal.

O embalsamamento é um processo químico que visa a preservação e sanitização do corpo humano por tempo indefinido. A técnica de embalsamamento é uma ferramenta importante no ensino e investigação em Anatomia viabilizando a conservação em boas condições de material cadavérico (minorando alterações estruturais significativas e mantendo a aparência natural). Este artigo reporta os resultados de embalsamamento de cadáveres obtidos por perfusão arterial, através da utilização de uma máquina de perfusão especialmente desenhada para o efeito. E que permite o controlo do processo de injecção de fluido de embalsamamento. A influência da técnica e a optimização dos seus parâmetros na qualidade final do embalsamamento foi avaliada através da análise histológicasequencial de tecidos cadavéricos e sua classificação por método original a partir de uma amostra de 17 cadáveres do Gabinete de Doação do Departamento de Anatomia da Faculdade de Ciências Médicas da Universidade Nova de Lisboa, sujeitos à técnica de embalsamamentodesenvolvida no Departamento. Concluímos que, com a utilização deste método, ocorre uma diminuição do processo de decomposição no momento do embalsamamento, o qual é eficaz a longo prazo (mais de um ano), exigindo apenas a manutenção do corpo a baixas temperaturas (4° C), sendo o músculo o tecido melhor preservado, com uma classificação considerada óptima.

Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.

OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

INTRODUCTION: Hearing loss is the most common sensory disability and is present in about 1.9 per 1000 infants at birth. The DFNB1 locus (13q11-q12) includes the genes GJB2, coding for connexin 26, and GJB6, encoding connexin 30. More than 100 mutations have been identified associated with autosomal dominant and recessive hearing loss in the GJB2 gene. OBJECTIVES: The aim of the present study was to identify the genetic aetiology of deafness in two Portuguese individuals, presenting nonsyndromic sensorineural moderate and severe hearing loss, respectively. PATIENTS AND METHODS: The individuals were evaluated in both ears by pure tone audiometry and blood samples were collected after written informed consent was signed. DNA extraction and PCR amplification of GJB2 coding region followed standard methodologies. PCR products were automatically sequenced in both directions. RESULTS: We identified a novel mutation, c.638T>A (p.Leu213X), in GJB2 gene. This nonsense mutation was found in both siblings, and was inherited from their hearing father. Molecular analysis showed that the two siblings were also heterozygous for c.333-334delAA, a previously described GJB2 deletion. This novel mutation was not found in a random control sample of 480 individuals that were screened for coding region of GJB2 gene. p.Leu213X mutation identified in this study for the first time changes the codon 213, coding for a highly conserved and slowly evolving residue of connexin 26, localised to the C-terminus domain of the protein, to a STOP codon, leading to the deletion of the last 14 amino acids of the protein. CONCLUSION: We can conclude that the aetiology of deafness in these individuals is due to the GJB2 genotype involving the c.333-334delAA deletion and the novel p.Leu213X mutation in compound heterozygosity.

The controversial p.Arg127His mutation in GJB2: report on three Portuguese hearing loss family cases.

Mutations in the GJB2 gene account for up to 50% of hereditary nonsyndromic hearing loss in several populations. Over 200 mutations are already described in this gene, and three of them, c.35delG, c.167delT, and c.235delC, are the most frequent in Caucasians, Ashkenazi Jews, and Asians, respectively. Most of GJB2 hearing loss-related mutations are recessive, but a few dominant alleles have also been described. Apart from the clearly pathogenic mutations, there are some other variants whose pathogenicity is still controversial, such as p.Met34Thr, p.Val37Ile, p.Arg127His, and p.Val153Ile. The p.Arg127His allele has been found in some mono- and biallelic hearing-impaired patients from several countries. In this article we report on some Portuguese patients harboring this mutation. Taking into consideration the analysis of these Portuguese cases as well as the genetic and functional data regarding p.Arg127His available in the literature, we conclude that this variant may be a cause of hearing loss depending on environmental factors and/or genetic background.