title: A Novel Frameshift Mutation ofSLC26A4in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct.
abstract: OBJECTIVE
  We aimed to identify the causative mutation for siblings in a Korean family with nonsyndromic hearing loss (HL) and enlarged vestibular aqueduct (EVA). The siblings were a 19-year-old female with bilateral profound HL and an 11-year-old male with bilateral moderately severe HL.
  
  
  METHODS
  We extracted genomic DNA from blood samples of the siblings with HL, their parents, and 100 controls. We performed mutation analysis forSLC26A4using direct sequencing.
  
  
  RESULTS
  The two siblings were compound heterozygotes with the novel mutation p.I713LfsX8 and the previously described mutation p.H723R. Their parents had heterozygous mono-allelic mutations. Father had p.I713LfsX8 mutation as heterozygous, and mother had p.H723R mutation as heterozygous. However, novel mutation p.I713LfsX8 was not detected in 100 unrelated controls.
  
  
  CONCLUSIONS
  Both mutations identified in this study were located in the sulfate transporter and anti-sigma factor antagonist domain, the core region for membrane targeting of SulP/SLC26 anion transporters, which strongly suggests that failure in membrane trafficking bySLC26A4is a direct cause of HL in this family. Our study could therefore provide a foundation for further investigations elucidating theSLC26A4-related mechanisms of HL.
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Korea.
authors.forename: Borum
authors.initials: B
authors.lastname: Sagong
authors.affiliation: Department of Aroma Applied Industry, College of Herbal Bio-Industry, Daegu Haany University, Gyeongsan, Korea.
authors.forename: Jeong-In
authors.initials: JI
authors.lastname: Baek
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Kyu-Yup
authors.initials: KY
authors.lastname: Lee
authors.affiliation: Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Korea.|School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Korea.
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
keywords: DFNB4; Enlarged Vestibular Aqueduct; Hearing Loss; Novel Mutation; SLC26A4