Cell Biochemistry and Biophysics

, Volume 73, Issue 1, pp 41–44 | Cite as

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness

  • Yuan Fang
  • Maosheng Gu
  • Chuanxia Wang
  • Feng Suo
  • Guangming WangEmail author
  • Yujuan Xia
Original Paper


Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss. The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness. Using fluorescence PCR method, the entire coding region of GJB2 gene, GJB3 gene, and SLC26A4 was analyzed. Direct DNA sequencing was used to analyze mutations in these genes among unrelated 2,674 cases of newborns. Also, 12S rRNA mutation was also studied in these cases. In 2,674 cases of newborns from June 2013 to June 2014, found deafness mutation in 137 cases (5.12 % of carrier rate), carrying GJB2 mutations in 68 cases (2.54 % of carry rate), GJB3 mutations in 10 cases (0.37 % of carry rate), SLC26A4 mutations in 54 cases (2.02 % of carry rate), and mitochondrial 12S rRNA mutations in five cases (0.19 % of carry rate). The study concludes that GJB2 gene mutation is the most common and mitochondrial 12S rRNA mutations are the least common mutation for congenital hearing loss in Chinese newborns.


GBJ2 GBJ3 Congenital hearing loss Mitochondrial 12S rRNA 


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Yuan Fang
    • 1
  • Maosheng Gu
    • 1
  • Chuanxia Wang
    • 1
  • Feng Suo
    • 1
  • Guangming Wang
    • 2
    Email author
  • Yujuan Xia
    • 3
  1. 1.Genetic Medicine CenterXuzhou Maternity and Child Health Care HospitalXuzhouPeople’s Republic of China
  2. 2.Department of RadiologyXuzhou Central HospitalXuzhouPeople’s Republic of China
  3. 3.Department of Obstetrics and GynecologyXuzhou Maternity and Child Health Care HospitalXuzhouPeople’s Republic of China

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