Molecular Analysis Of Slc26a4 Gene In Patients With Nonsyndromic Hearing Loss And Eva: Identification Of Two Novel Mutations In Brazilian Patients.

dc.creatorde Moraes, Vanessa Cristine Sousa
dc.creatordos Santos, Nathalia Zocal Pereira
dc.creatorRamos, Priscila Zonzini
dc.creatorSvidnicki, Maria Carolina Costa Melo
dc.creatorCastilho, Arthur Menino
dc.creatorSartorato, Edi Lúcia
dc.date2013-Mar
dc.date2015-11-27T13:32:41Z
dc.date2015-11-27T13:32:41Z
dc.date.accessioned2018-03-29T01:19:21Z
dc.date.available2018-03-29T01:19:21Z
dc.identifierInternational Journal Of Pediatric Otorhinolaryngology. v. 77, n. 3, p. 410-3, 2013-Mar.
dc.identifier1872-8464
dc.identifier10.1016/j.ijporl.2012.11.042
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/23273637
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/201034
dc.identifier23273637
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1301267
dc.descriptionThe SLC26A4 gene has been described as the second gene involved in most cases of sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss associated with an enlarged vestibular aqueduct (EVA) and Pendred syndrome, which causes early hearing loss and affects the thyroid gland. Typically, the hearing loss is profound and prelingual. However, in some individuals, hearing impairment may develop later in childhood and then progress. Over 200 different SLC26A4 mutations have been reported, with each ethnic population having its own distinctive mutant allele series including a few prevalent founder mutations. Perform the screening of the 20 coding exons of SLC26A4 gene in Brazilian deaf individuals with EVA. Among the 23 unrelated non-syndromic hearing loss Brazilian patients with EVA, in whom no deafness-causing mutations of the GJB2 gene, the direct sequencing was performed to screen the 20 exons and their flanking regions of the SLC26A4 gene. The sequencing results revealed 9 cases (39%) carrying 13 different SLC26A4 mutations, including 11 known mutations (279delT, V138F, T193I, IVS8+1G>A, T410M, Q413R, R409H, L445W, IVS15+5G>A, V609G, and R776C) and 2 novel mutation (G149R and P142L). The SLC26A4 mutations have a high carrying rate in non-syndromic hearing loss Brazilian patients. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to the patients and their families.
dc.description77
dc.description410-3
dc.languageeng
dc.relationInternational Journal Of Pediatric Otorhinolaryngology
dc.relationInt. J. Pediatr. Otorhinolaryngol.
dc.rightsfechado
dc.rightsCopyright © 2012 Elsevier Ireland Ltd. All rights reserved.
dc.sourcePubMed
dc.subjectAdolescent
dc.subjectAdult
dc.subjectBrazil
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectHearing Loss, Sensorineural
dc.subjectHumans
dc.subjectMale
dc.subjectMass Screening
dc.subjectMembrane Transport Proteins
dc.subjectMiddle Aged
dc.subjectMolecular Sequence Data
dc.subjectMutation
dc.subjectSequence Analysis, Dna
dc.subjectYoung Adult
dc.titleMolecular Analysis Of Slc26a4 Gene In Patients With Nonsyndromic Hearing Loss And Eva: Identification Of Two Novel Mutations In Brazilian Patients.
dc.typeArtículos de revistas


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