title: Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.
abstract: OBJECTIVE
  Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  Affiliated hospital of the university.
  
  
  METHODS
  The authors analyzed the GJB2, SLC26A4, FOXI1, and KCNJ10 gene sequences in 43 patients presenting with bilateral hearing impairment associated with inner ear malformation using pyrosequencing and direct DNA sequencing.
  
  
  RESULTS
  In total, 74.4% (32/43) of patients carried at least 1 of 14 pathogenic SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms. Patients with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutation than Mondini dysplasia patients. No FOXI1 or KCNJ10 potential pathogenic mutation was present, and GJB2 biallelic pathogenic mutations were uncommon (2.3%; 1/43). No significant correlation was observed between the genotype and phenotype of SLC26A4 mutations.
  
  
  CONCLUSIONS
  SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common. Other possible genes or external factors may contribute to this multibranch abnormality.
authors.affiliation: Department of Otorhinolaryngology, the First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou, PR China.
authors.forename: Kaitian
authors.initials: K
authors.lastname: Chen
authors.forename: Xianren
authors.initials: X
authors.lastname: Wang
authors.forename: Liang
authors.initials: L
authors.lastname: Sun
authors.forename: Hongyan
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D007758:Ear, Inner / Q000002:abnormalities*; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000076988:Sulfate Transporters; D055815:Young Adult; D000098854:Kcnj10 Channel
chemical_list: D017630:Connexins; C477894:FOXI1 protein, human; D051858:Forkhead Transcription Factors; C000607042:GJB2 protein, human; D000098854:Kcnj10 Channel; D026901:Membrane Transport Proteins; D024661:Potassium Channels, Inwardly Rectifying; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26