title: Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene?
abstract: BACKGROUND
  Congenital cytomegalovirus (CMV) infection and mutation of the gap junction β-2 (GJB2) gene are important causes of sensorineural hearing loss (SNHL). This study aims to determine if congenital CMV infection leads to deafness by inducing GJB2 mutation.
  
  
  METHODS
  GJB2 gene sequencing and auditory brainstem response testing were performed in 159 neonates (63 with and 96 without CMV infection) from August 2008 to August 2011. For neonates with GJB2 mutation, their parents were further screened for GJB2 sequence.
  
  
  RESULTS
  The incidence of SNHL was 12.7% in CMV-infected but 0% in uninfected children aged 1-1.5 y (P = 0.000). Similar mutation rates of the GJB2 gene were observed in neonates with or without CMV infection (34.9 vs. 32.3%, respectively, P = 0.734). No significant difference in the mutation rate of GJB2 was found among neonates with CMV infection and SNHL, those with CMV infection and normal hearing, and uninfected newborns with normal hearing (P = 0.438). Mutations 79G>A, 109G>A, 341A>G, and 608T>C were found in neonates with and without CMV infection. All of the above mutations were also found in both or one of the corresponding parents.
  
  
  CONCLUSIONS
  Congenital CMV infections may cause deafness in neonates, but this might be independent of GJB2 gene mutation.
authors.affiliation: Department of Neonatology, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: Lu-Quan
authors.initials: LQ
authors.lastname: Li
authors.forename: Jun-Jie
authors.initials: JJ
authors.lastname: Tan
authors.forename: Yuan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Jia-Lin
authors.initials: JL
authors.lastname: Yu
mesh_terms: D001483:Base Sequence; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003586:Cytomegalovirus Infections / Q000151:congenital* / Q000503:physiopathology*; D017931:DNA Primers / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D016057:Evoked Potentials, Auditory, Brain Stem; D005453:Fluorescence; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D000072259:Connexin 26