The Journal of laryngology and otology · 2012
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
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Lai R, Hu P, Zhu F, Zhu G, Vivero R, Peng A, Wu W, Xiao Z, Liu X, Xie D
Аннотация
OBJECTIVE: To review the genotype and cochlear implantation outcome of patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
METHODS: Twenty-one Chinese children with nonsyndromic hearing loss and enlarged vestibular aqueduct underwent genetic examination. A DNA microarray was used to screen for the IVS7-2A>G and H723R mutations. Any DNA samples with one or none of the two mutant alleles were sequenced to detect other mutations in the SLC26A4 and FOXI1 genes.
RESULTS: Twelve SLC26A4 mutations were detected, including three novel mutations. The most common mutations detected were IVS7-2A>G and H723R. Twelve patients received cochlear implants, and subsequently demonstrated excellent speech perception.
CONCLUSION: Three novel mutations were detected in Chinese patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. The SLC26A4 mutation spectrum in the Chinese population is similar to that in other East Asian populations. Cochlear implantation is a safe and effective treatment in patients with enlarged vestibular aqueduct.
METHODS: Twenty-one Chinese children with nonsyndromic hearing loss and enlarged vestibular aqueduct underwent genetic examination. A DNA microarray was used to screen for the IVS7-2A>G and H723R mutations. Any DNA samples with one or none of the two mutant alleles were sequenced to detect other mutations in the SLC26A4 and FOXI1 genes.
RESULTS: Twelve SLC26A4 mutations were detected, including three novel mutations. The most common mutations detected were IVS7-2A>G and H723R. Twelve patients received cochlear implants, and subsequently demonstrated excellent speech perception.
CONCLUSION: Three novel mutations were detected in Chinese patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. The SLC26A4 mutation spectrum in the Chinese population is similar to that in other East Asian populations. Cochlear implantation is a safe and effective treatment in patients with enlarged vestibular aqueduct.
Предметные рубрики MeSH
AllelesCase-Control StudiesChildChild, PreschoolChinaCochlear ImplantationFemaleForkhead Transcription FactorsGenetic Predisposition to DiseaseGenetic TestingGenotypeHearing Loss, SensorineuralHumansInfantMaleMembrane Transport ProteinsMutationOligonucleotide Array Sequence AnalysisPhenotypeRadiographySequence Analysis, DNASeverity of Illness IndexSpeech PerceptionSulfate TransportersTreatment OutcomeVestibular Aqueduct