Evaluación de mutaciones en los genes GJB2 y GJB6 en pacientes con sordera congénita identificados mediante screening neonatal

V, Gabriela López; Y, Alonso Puga; P, Enrica Pittaluga; M, Loretho Bustamante; B, Cristián Godoy

doi:10.4067/s0370-41062012000200006

Cited by 2 publications

(1 citation statement)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Los resultados de este estudio ofrecen una perspectiva general del perfil sociodemográfico y auditivo de las personas con HNS de causa genética probable, procedentes de dos de las áreas más densamente pobladas de Chile (López V. et al, 2012, Rodríguez et al 2003.…”

Section: Resultados Principalesunclassified

Sociodemographic and hearing profile of a population with sensorineural hearing loss in Chile

Cortese

Herrera

Olivares

et al. 2022

Auditio

View full text Add to dashboard Cite

Background. Evidence-based information on genetic sensorineural hearing loss in Latin America is limited, hindering the advancement of related clinical practice and the development of relevant healthcare policies in the field. This study describes sociodemographic and clinical characteristics of a group of Chilean participants with congenital, childhood, progressive or late-onset sensorineural hearing loss of unknown etiology; all non-genetic causes of hearing loss were excluded. Methods. A quantitative study, with a non-experimental, observational, cross-sectional design and a descriptive scope. From 978 patients diagnosed with SNHL, 286 subjects fulfilled the inclusion criteria, and 138 patients accepted to participate. Results. The most frequent audiological-profile was symmetrical-bilateral-profound-SNHL with a sloping pattern. The median age at audiological diagnosis was 24.5 months (IQR:12-53) and at first-time Hearing-Assistive-Device-use (HAD-use) was 30 months (IQR:13-69). 71% of HAD were financed by public resources. Conclusion. The age at audiological diagnosis in SNHL of suspected genetic causes is still far from international standards. These results are valuable for public health research and policy development, not only for the Chilean population, but also for other Hispanic communities and other middle-high income countries.

show abstract

Section: Resultados Principalesunclassified

Sociodemographic and hearing profile of a population with sensorineural hearing loss in Chile

Cortese

Herrera

Olivares

et al. 2022

Auditio

View full text Add to dashboard Cite

show abstract

Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile

Cifuentes

Arancibia

et al. 2013

Biol. Res.

View full text Add to dashboard Cite

Hearing loss is the most common inherited sensorial defi ciency in humans; about 1 in 1000 children suff er from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated in two samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined: Group 1 consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66 school children with prelingual deafness attending special education institutions for deaf people. Individuals with profound to moderate isolated neurosensory hearing loss with unknown etiology were included. The presence of the c.35delG mutation was evaluated by the allele-specifi c polymerase chain reaction method (PCR), and in some cases it was confi rmed by direct DNA sequencing of the coding region of the GJB2 gene. Deaf relatives were present in 20.3% of the cases. We found 19.5% (22/113) patients with the c.35delG mutation, 6 of them homozygous; these rates are similar to frequencies found in other Latin American countries.

show abstract

Evaluación de mutaciones en los genes GJB2 y GJB6 en pacientes con sordera congénita identificados mediante screening neonatal

Cited by 2 publications

References 16 publications

Sociodemographic and hearing profile of a population with sensorineural hearing loss in Chile

Sociodemographic and hearing profile of a population with sensorineural hearing loss in Chile

Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile

Contact Info

Product

Resources

About