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

Biological Research
Lucía CifuentesCarolina Ríos

Abstract

Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer 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-specific polymerase chain reaction method (PCR), and in some cases it was confirmed 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 simi...Continue Reading

Citations

Aug 3, 2014·International Journal of Pediatric Otorhinolaryngology·César Paz-y-MiñoIndira Proaño
Oct 8, 2014·International Journal of Pediatric Otorhinolaryngology·Aideé Alejandra Hernández-JuárezLaura Elia Martínez-de-Villarreal
May 23, 2015·The Annals of Otology, Rhinology, and Laryngology·Keita TsukadaShin-Ichi Usami
Sep 4, 2018·Annals of Human Genetics·Fatemeh Azadegan-DehkordiMorteza Hashemzadeh-Chaleshtori
Mar 23, 2017·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Yasin AbdurehimAnthony G Zeitouni
Dec 14, 2019·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Malek H BouzaherAnita Jeyakumar
Oct 16, 2021·Human Genetics·Karina Lezirovitz, Regina Célia Mingroni-Netto

❮ Previous
Next ❯

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.