title: Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
abstract: OBJECTIVE
  Enlarged vestibular aqueduct is the most common inner ear malformation in individuals with sensorineural hearing loss. Mutations in SLC26A4 can cause non-syndromic EVA. To date, more than 170 SLC26A4 mutations have been described. The aim of the present study was to detect and report genetic causes of four unrelated Chinese families with hearing loss.
  
  
  METHODS
  We evaluated 4 families presenting bilateral enlarged vestibular aqueducts and describe the clinical and molecular characteristics of 5 patients.
  
  
  RESULTS
  The SLC26A4 gene was sequenced in 23 members of these 4 Chinese families with EVA, and the patients were found to carry 4 compound heterozygous mutations, p.G197R and p.S391R, IVS7-2A>G, p.I188T and c.1746 del G, p.V659L and p.T410M, and p.T94I and p.G197R, none of which have been reported previously.
  
  
  CONCLUSIONS
  These results emphasize the necessity of considering the complete DNA sequencing of the SLC26A4 gene in molecular diagnosis of deafness, especially when phenotypes such as congenital, invariable, and progressive hearing loss with EVA are present.
authors: Central Hospital of Handan, 056001 Hebei, China. yaogendong2000@163.com
authors: Gendong
authors: G
authors: Yao
authors: Shouxia
authors: S
authors: Li
authors: Dingli
authors: D
authors: Chen
authors: Huijun
authors: H
authors: Wang
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; D002648:Child; D002675:Child, Preschool; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters