title: Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China.
authors.forename: R
authors.initials: R
authors.lastname: Lai
authors.forename: P
authors.initials: P
authors.lastname: Hu
authors.forename: F
authors.initials: F
authors.lastname: Zhu
authors.forename: G
authors.initials: G
authors.lastname: Zhu
authors.forename: R
authors.initials: R
authors.lastname: Vivero
authors.forename: A
authors.initials: A
authors.lastname: Peng
authors.forename: W
authors.initials: W
authors.lastname: Wu
authors.forename: Z
authors.initials: Z
authors.lastname: Xiao
authors.forename: X
authors.initials: X
authors.lastname: Liu
authors.forename: D
authors.initials: D
authors.lastname: Xie
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D019929:Cochlear Implantation; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D010641:Phenotype; D011859:Radiography; D017422:Sequence Analysis, DNA / Q000379:methods; D012720:Severity of Illness Index; D013067:Speech Perception / Q000502:physiology; D000076988:Sulfate Transporters; D016896:Treatment Outcome; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging
chemical_list: C477894:FOXI1 protein, human; D051858:Forkhead Transcription Factors; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters