title: Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss.
abstract: OBJECTIVE
  Due to the fact that SLC26A4 has been suggested as the second cause of hearing loss (HL) in Iran as well as many other countries, obtaining more comprehensive information about SLC26A4 mutations can facilitate more efficient genetic services to the patients with hereditary hearing loss. This investigation aims to detect genetic cause of two Iranian families with hearing loss.
  
  
  METHODS
  In the present study, genetic linkage analysis via 4 short tandem repeat markers linked to SLC26A4 was performed for two consanguineous families originating from Hormozgan and Chaharmahal va Bakhtiari provinces of Iran, co-segregating autosomal recessive hearing loss and showed no GJB2 mutations in our preliminary investigation. For identification of mutations, DNA sequencing of SLC26A4 including all the 21 exons, exon-intron boundaries and the promoter was carried out.
  
  
  RESULTS
  The results showed linkage to this gene in both families. After sequencing, two novel SLC26A4 mutations (c.65-66insT in exon 2 and c.2106delG in exon 19) were revealed in the two studied families.
  
  
  CONCLUSIONS
  Results of this study stress the necessity of considering the analysis of SLC26A4 in molecular diagnosis of deafness especially when phenotypes such as goiter or enlarged vestibular aqueduct are present.
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran. nasrin232002@yahoo.com
authors.forename: Nasrin
authors.initials: N
authors.lastname: Yazdanpanahi
authors.forename: Morteza Hashemzadeh
authors.initials: MH
authors.lastname: Chaleshtori
authors.forename: Mohammad Amin
authors.initials: MA
authors.lastname: Tabatabaiefar
authors.forename: Zahra
authors.initials: Z
authors.lastname: Noormohammadi
authors.forename: Effat
authors.initials: E
authors.lastname: Farrokhi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Shirin
authors.initials: S
authors.lastname: Shahbazi
authors.forename: Azam
authors.initials: A
authors.lastname: Hosseinipour
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D000072259:Connexin 26; D017630:Connexins; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006044:Goiter, Nodular / Q000235:genetics* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D007492:Iran; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D018570:Risk Assessment; D012680:Sensitivity and Specificity; 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