title: Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
abstract: CONCLUSIONS
  This study demonstrated high prevalence of GJB2, SLC26A4, and mtDNA A1555G mutations in Chinese patients with nonsyndromic hearing loss and discovered eight novel mutations in SLC26A4. Most of these novel mutations were predicted pathogenic variants.
  
  
  OBJECTIVE
  Nonsyndromic hearing loss is the most common neurosensory deafness where the majority of patients have highly diversified genetic defects. This study aimed to define the genetic profile of deafness in a Chinese population with potential to discover novel mutations.
  
  
  METHODS
  A total of 227 segregating deaf students and 200 individuals with normal hearing were enrolled. With the Sanger sequencing chemistry, direct sequencing was performed on entire coding regions of GJB2, GJB3, SLC26A4, and mtDNA m.C1494T and m.A1555G.
  
  
  RESULTS
  Direct sequencing analysis revealed that 53 (23.35%) of 227 patients carried at least 1 mutant allele in GJB2, 40 (17.62%) patients in SLC26A4, 5 (2.20%) patients in mtDNA A1555G, and 1 (0.44%) patient in mtDNA C1494T mutations. Four patients carried three unclassified mutations in GJB3 genes. Overall 38 mutant variants were detected in this cohort of patients, including 8 novel mutations in SLC26A4. The eight novel variants were six missense substitutions (p.V163L, p.G222S, p.A456D, p.N457I, p.C466Y, p.F667L), one nonsense mutation (p.W472X), and one frameshift (p.Asn612Ilefs×23).
authors: Department of Laboratory Medicine, Central Hospital of Handan City, Hebei, China. yaogendong2000@163.com
authors: Gendong
authors: G
authors: Yao
authors: Dingli
authors: D
authors: Chen
authors: Huijun
authors: H
authors: Wang
authors: Shouxia
authors: S
authors: Li
authors: Jin
authors: J
authors: Zhang
authors: Zhixing
authors: Z
authors: Feng
authors: Lili
authors: L
authors: Guo
authors: Zhiming
authors: Z
authors: Yang
authors: Sujun
authors: S
authors: Yang
authors: Caixia
authors: C
authors: Sun
authors: Xiaofang
authors: X
authors: Zhang
authors: Duan
authors: D
authors: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D020125:Mutation, Missense; D012335:RNA, Ribosomal / Q000235:genetics*; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26; C068044:GJB3 protein, human