title: Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China.
abstract: CONCLUSIONS
  In the study population in northwest China, a total of 33.06% of deaf patients have inherited hearing impairment caused by GJB2, SLC26A4, and mtDNA 1555A>G mutations. The mutation frequencies of GJB2, SLC26A4, and mtDNA 1555A>G genes were 16.12%, 10.54%, and 6.4%, respectively, in our study cohort. Thus, screening is conventionally performed for GJB2, SLC26A4, and mtDNA 1555A>G in these populations.
  
  
  OBJECTIVE
  This study aimed to investigate the mutations of GJB2, mitochondrial DNA 12S rRNA1555A>G, and SLC26A4 genes in Han Chinese, Hui people, and Tibetan ethnicities in patients with nonsyndromic hearing loss (NSHL) in northwest China.
  
  
  METHODS
  A total of 484 unrelated subjects with hearing loss who attended special education schools in northwest China were enrolled in this study. Three prominent deafness-related genes, GJB2, SLC26A4, and mtDNA 1555A>G, were screened for mutations in our study cohort.
  
  
  RESULTS
  The mutation frequencies of GJB2, SLC26A4, and mtDNA 1555A>G genes were 16.12%, 10.54%, and 6.4%, respectively. The prevalence of GJB2 mutations was 17.52%, 15.35%, and 11.43% in Han Chinese, Hui people, and Tibetan participants, respectively. c.235delC was the most prevalent mutation, accounting for 65.71% of all GJB2 mutant alleles. The prevalence of SLC26A4 mutations was 12.39%, 8.84%, and 8.57% in Han Chinese, Hui people, and Tibetan participants, respectively. The c.919-2 A>G mutation was the most common form, accounting for 60.47% of all SLC26A4 mutant alleles. The prevalence of the homoplasmic mtDNA 1555A>G mutation was 8.97%, 3.72%, and 5.71% in Han Chinese, Hui people, and Tibetan participants, respectively, which represents a statistically significant difference between the Han Chinese and Hui people (χ(2) = 5.118, p < 0.05).
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Second Hospital of Lanzhou University , Lanzhou.
authors.forename: Shi-Hong
authors.initials: SH
authors.lastname: Duan
authors.forename: Yi-Ming
authors.initials: YM
authors.lastname: Zhu
authors.forename: Yan-Li
authors.initials: YL
authors.lastname: Wang
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Guo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000208:ethnology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26
keywords: Deafness-related genes; GJB2; Han Chinese; Hui people; SLC26A4; Tibetan; mtDNA1555A>G