Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201034
Type: Artigo de periódico
Title: Molecular Analysis Of Slc26a4 Gene In Patients With Nonsyndromic Hearing Loss And Eva: Identification Of Two Novel Mutations In Brazilian Patients.
Author: de Moraes, Vanessa Cristine Sousa
dos Santos, Nathalia Zocal Pereira
Ramos, Priscila Zonzini
Svidnicki, Maria Carolina Costa Melo
Castilho, Arthur Menino
Sartorato, Edi Lúcia
Abstract: The 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.
Subject: Adolescent
Adult
Brazil
Child
Child, Preschool
Female
Hearing Loss, Sensorineural
Humans
Male
Mass Screening
Membrane Transport Proteins
Middle Aged
Molecular Sequence Data
Mutation
Sequence Analysis, Dna
Young Adult
Rights: fechado
Identifier DOI: 10.1016/j.ijporl.2012.11.042
Address: http://www.ncbi.nlm.nih.gov/pubmed/23273637
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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