Results 151 to 160 of about 2,527,901 (173)

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

International Journal of Pediatric Otorhinolaryngology, 2009
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family.
CAMA, ELONA, ALEMANNO MS, BELLACCHIO E, SANTARELLI, ROSAMARIA, CARELLA M, ZELANTE L, PALLADINO T, INCHES I, DI PAOLA F, ARSLAN, EDOARDO, MELCHIONDA S.   +10 more
openaire   +2 more sources

Intronic variants of SLC26A4 gene enhance splicing efficiency in hybrid minigene assay

Gene, 2017
The SLC26A4 genomic sequence screening in autoimmune thyroid diseases (AITD) revealed different variants types with possible pathogenic effects. Although intronic variants may have more detrimental effects than those coding, they are poorly explored. Thus, in a first assessment, our bioinformatics analysis of intronic variants predicted a pathogenic ...
Rihab, Kallel-Bouattour, Salima, Belguith-Maalej, Emna, Zouari-Bradai, Mouna, Mnif, Mohamed, Abid, Hassen, Hadj Kacem   +5 more
openaire   +2 more sources

The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients

European Archives of Oto-Rhino-Laryngology, 2013
To analyze the treatment outcomes in pediatric cochlear implant patients with mutations in GJB2 or SLC26A4 and to determine these mutations' impact on rehabilitative outcomes. The study included 41 children who received unilateral cochlear implantations.
Tao Yang
exaly   +3 more sources

Molecular analysis of SLC26A4 gene in a Chinese deafness family.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To identify the pathogenic gene for a non-syndromic hearing loss family.Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was ...
Hao, Hu, De-sheng, Liang, Ling-qian, Wu, Yong, Feng, Fang, Cai, Kun, Xia, Qian, Pan, Zhi-gao, Long, He-ping, Dai, Jia-hui, Xia   +9 more
openaire   +1 more source

A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome

Gene, 2012
Pendred syndrome (PS) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss, goiter, and incomplete iodide organification. Patients with PS also have structural anomalies of the inner ear such as enlarged vestibular aqueducts (EVA) and Mondini's malformation.
Borum, Sagong, Jun Ho, Seok, Tae-Jun, Kwon, Un-Kyung, Kim, Sang-Heun, Lee, Kyu-Yup, Lee   +5 more
openaire   +2 more sources

Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome

International Journal of Pediatric Otorhinolaryngology, 2016
To investigate the genetic causes of hearing loss in a two generation Chinese family with enlarged vestibular aqueduct syndrome (EVAS).Clinical and genetic evaluations were conducted in a deaf proband and her normal-hearing parents. Sanger sequencing analysis of all the 21 exons, the exon-intron boundaries and the promoter in SLC26A4 gene was performed
Fengguo, Zhang, Xiaohui, Bai, Yun, Xiao, Xue, Zhang, Guodong, Zhang, Jianfeng, Li, Lei, Xu, Haibo, Wang   +7 more
openaire   +2 more sources

[Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation].

Zhonghua fu chan ke za zhi, 2008
To identify deafness related gene and provide its prenatal diagnosis to avoid deaf fetus delivery.DNA was extracted from amniotic cells in a pregnant woman close to 21 weeks' gestation, as well as from peripheral blood cells of the pregnant woman, her husband and their two sons. Screening for GJB2 and SLC26A4 gene mutations was firstly performed in the
Hao, Hu, Ling-qian, Wu, De-sheng, Liang, Yong, Feng, Fang, Cai, Kun, Xia, Qian, Pan, Zhi-gao, Long, He-ping, Dai, Jia-hui, Xia   +9 more
openaire   +1 more source

Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes

International Journal of Pediatric Otorhinolaryngology, 2013
Most studies of the molecular etiology of sensorineural hearing loss have described deafness as a monogenic disease encompassing double-allele mutations for patients with autosomal recessive deafness. Here, we report the first case of autosomal recessive genetic deafness in an enlarged vestibular aqueduct syndrome (EVAS) patient with biallelic ...
Shasha, Huang, Dongyi, Han, Guojian, Wang, Yongyi, Yuan, Yueshuai, Song, Mingyu, Han, Zhengyi, Chen, Pu, Dai   +7 more
openaire   +2 more sources

[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene].

Laryngo- rhino- otologie, 2021
Due to development of molecular techniques at hand, the number of genomic sequence variants detected in patient investigations is rising constantly. The number of potentially involved genes in hereditary hearing loss is rising simultaneously.In this overview, current methods for diagnostic workup on a molecular and functional level for variants of the ...
Sebastian, Roesch, Emanuele, Bernardinelli, Saskia, Wortmann, Johannes A, Mayr, Ingrid, Bader, Gregor, Schweighofer-Zwink, Gerd, Rasp, Silvia, Dossena   +7 more
openaire   +1 more source

[Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2018
Objective:To explore the mutation spectrum of SLC26A4 in Chinese patients with enlarged vestibular aqueduct syndrome.Method:Genomic DNA samples were extracted from peripheral blood of the cochlear implant recipients associated with enlarged vestibular aqueduct syndrome.
J, Chen, L S, Shi, H, Zhou, G J, Zhu, D B, Ma, J Y, Li, X, Gao   +6 more
openaire   +1 more source