title: Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
abstract: CONCLUSIONS
  To our knowledge, this is the first report of PJVK gene mutation in a Chinese non-syndromic sensorineural hearing loss (NSHL) family. Our data indicate that the PJVK gene contributes to hearing impairment in the Chinese population, but it is not a major cause.
  
  
  OBJECTIVE
  To investigate the contribution of PJVK mutations to NSHL in the Chinese population.
  
  
  METHODS
  We screened for the PJVK gene in a sample of 65 autosomal recessive NSHL families without GJB2, SLC26A4, or mitochondrial 12S rRNA gene mutations. Seven pairs of PCR primers were designed to amplify all of the exons and their flanking regions of the PJVK gene. The PCR products were sequenced and analyzed for identification of mutations.
  
  
  RESULTS
  In all, we identiﬁed one novel frameshift mutation, c.930_931del AC (p.C312W fsX19), co-segregating with the phenotype in one consanguineous family with a prevalence of 1.5% (1/65). The p.C312W fsX19 mutation was just positioned in the zinc-fingers domain, which was important to the function of pejvakin, and resulted in a stop codon after 19 additional amino acids. It was not identiﬁed in the controls and was considered as the causative mutation of family 804566 with autosomal recessive, non-syndromic, prelingual sensorineural hearing impairment.
authors: Department of Otolaryngology/Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital , Beijing , China.
authors: Qiu-Jing
authors: QJ
authors: Zhang
authors: Lan
authors: L
authors: Lan
authors: Na
authors: N
authors: Li
authors: Yue
authors: Y
authors: Qi
authors: Liang
authors: L
authors: Zong
authors: Wei
authors: W
authors: Shi
authors: Lan
authors: L
authors: Yu
authors: Hui
authors: H
authors: Wang
authors: Ju
authors: J
authors: Yang
authors: Lin-Yi
authors: LY
authors: Xie
authors: Feifan
authors: F
authors: Zhao
authors: Da-Yong
authors: DY
authors: Wang
authors: Bing
authors: B
authors: Han
authors: Qiu-Ju
authors: QJ
authors: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D000072259:Connexin 26; D017630:Connexins; D016368:Frameshift Mutation; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D000094524:Gasdermins
chemical_list: D000072259:Connexin 26; D017630:Connexins; D009419:Nerve Tissue Proteins; C000607042:GJB2 protein, human; C519847:PJVK protein, human; D000094524:Gasdermins
keywords: ARNSHI; DFNB59; deafness; pejvakin