title: Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
abstract: BACKGROUND
  Mutations in OTOF and PJVK genes cause DFNB9 and DFNB59 types of hearing loss, respectively. The patients carrying pathogenic mutations in either of these genes may show the typical phenotype of auditory neuropathy spectrum disorder (ANSD). The aim of the present study was to identify OTOF and PJVK mutations in sporadic ANSD patients.
  
  
  RESULTS
  A total of 76 unrelated Chinese non-syndromic ANSD patients were sequenced on the gene OTOF and PJVK exon by exon. Variants were valued in 105 controls with normal hearing to verify the carrying rate. We identified one pathogenic mutation (c.1194T>A) and three novel, possibly pathogenic, variants (c.3570+2T>C, c.4023+1 G>A, and c.1102G>A) in the OTOF gene, and one novel, possibly pathogenic, variant (c.548G>A) in PJVK. Moreover, we found three novel missense mutations within the exons of OTOF.
  
  
  CONCLUSIONS
  As we identified 4 and 1 possible pathogenic variants of the OTOF gene and the PJVK gene, respectively, we believe that screening in these genes are important in sporadic ANSD patients. The pathogenicity of these novel mutations needs further study because of their single heterozygous nature. Knowledge on the mutation spectra of these genes in Chinese would be beneficial in understanding the genetic character of this worldwide disease.
authors.affiliation: Deafness Gene Diagnosis, PLA Otolaryngology-Head and Neck Surgery Center, Xijing Hospital, Fourth Military Medical University, Xi'an, Shannxi, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Ying-ying
authors.initials: YY
authors.lastname: Fan
authors.forename: Shu-juan
authors.initials: SJ
authors.lastname: Wang
authors.forename: Peng-Fei
authors.initials: PF
authors.lastname: Liang
authors.forename: Jin-ling
authors.initials: JL
authors.lastname: Wang
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: Qiu
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006313:Hearing Loss, Central / Q000208:ethnology* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D017386:Sequence Homology, Amino Acid; D000094524:Gasdermins
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C118457:OTOF protein, human; C519847:PJVK protein, human; D000094524:Gasdermins