title: Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
abstract: BACKGROUND
  The mutation frequencies of three common deafness genes (MT-RNR1 m.1555A>G, GJB2, and SLC26A4) among patients with nonsyndromic sensorineural hearing loss (NSHL) were different in previous studies. Inconsistent selection criteria for recruiting patients could have led to differences in estimating the frequencies of genetic mutations thus resulting in different mutation frequencies among these studies. The aim of this study was to reveal the differences in the mutation spectrums of the three common genes between familial and sporadic Chinese Han patients.
  
  
  METHODS
  Totally, 301 familial probands and 703 sporadic patients with NSHL were enrolled in this study. Three genes, MT-RNR1 m.1555A>G, GJB2, and SLC26A4, were screened for mutation in our study cohort. A χ(2) test was performed to compare the mutation frequencies between the two groups.
  
  
  RESULTS
  The study showed that the disease-causing mutation frequencies of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 were 12.29%, 14.62%, and 18.27% in familial probands and 3.56%, 18.63%, and 18.92% in sporadic patients, respectively. The mutation frequency of MT-RNR1 m.1555A>G in familial probands was significantly higher than in sporadic patients (χ(2) test, P = 0.000), while there were no significant differences in the mutation frequencies of GJB2 and SLC26A4 between the familial and sporadic groups (χ(2) test, P > 0.05).
  
  
  CONCLUSIONS
  It is necessary to reveal the differences in gene mutation frequencies between patients of different sources or characteristics by comparative studies in order to avoid selection bias. The mutations of GJB2, SLC26A4, and MT-RNR1 m.1555A>G are the most important etiological factors in Chinese Han patients, among which SLC26A4 might be the most frequent.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.affiliation: Department of Otolaryngology, Secondary Artillery General Hospital of Chinese People's Liberation Army, Beijing 100088, China.
authors.forename: Yubin
authors.initials: Y
authors.lastname: Ji
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Han
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Zong
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Lan
authors.initials: L
authors.lastname: Lan
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Yali
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Hongyang
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China. Email: wangdy301@126.com.
authors.forename: Dayong
authors.initials: D
authors.lastname: Wang
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Qiuju
authors.initials: Q
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26