title: Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.
abstract: OBJECTIVE
  The aim of our study was to identify the IVS2-2A>G sequence change in the SLC26A5 (Prestin) gene in Estonian individuals with hearing loss and in their family members.
  
  
  METHODS
  In the years 2005-2007 we have screened 194 probands with early onset hearing loss and 68 family members with an arrayed primer extension (APEX) microarray, which covers 201 mutations in six nuclear genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5) and two mitochondrial genes encoding 12S rRNA and tRNA-Ser (UCN).
  
  
  RESULTS
  In four probands with early onset hearing loss and in five unaffected family members from five families we identified the IVS2-2A>G change in one allele of the SLC26A5 gene. We did not find any homozygosity for this splice variant. IVS2-2A>G was identified in 2.1% of probands. One of these probands, however, is also homozygous for the 35delG mutation in the GJB2 gene and a second patient has Down syndrome, which is also associated with hearing impairment. Therefore, in those two cases the etiology of the hearing loss is probably not associated with the IVS2-2A>G sequence change in the SLC26A5 gene.
  
  
  CONCLUSIONS
  Our data support the hypothesis that heterozygosity for the mutation IVS2-2A>G in SLC26A5 gene may not, by itself, be sufficient to cause hearing loss.
authors.affiliation: Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia.
authors.forename: Rita
authors.initials: R
authors.lastname: Teek
authors.forename: Eneli
authors.initials: E
authors.lastname: Oitmaa
authors.forename: Katrin
authors.initials: K
authors.lastname: Kruustük
authors.forename: Riina
authors.initials: R
authors.lastname: Zordania
authors.forename: Kairit
authors.initials: K
authors.lastname: Joost
authors.forename: Elve
authors.initials: E
authors.lastname: Raukas
authors.forename: Neeme
authors.initials: N
authors.lastname: Tõnisson
authors.forename: Phyllis
authors.initials: P
authors.lastname: Gardner
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
authors.forename: Mart
authors.initials: M
authors.lastname: Kull
authors.forename: Katrin
authors.initials: K
authors.lastname: Ounap
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D027321:Anion Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins; D004957:Estonia; D034381:Hearing Loss / Q000453:epidemiology* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D020033:Protein Isoforms / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D027321:Anion Transport Proteins; D017630:Connexins; C000607042:GJB2 protein, human; D020033:Protein Isoforms; C498719:SLC26A5 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26