title: Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.
abstract: OBJECTIVE
  The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients.
  
  
  METHODS
  We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Fars province of Iran with no GJB2 mutations. Initially, linkage analysis was performed by four DFNB4 short tandem repeat markers. The result showed linkage to DFNB4 locus. Following that, DNA sequencing of all 21 exons, their adjacent intronic sequences and the promoter of SLC26A4 was carried out for mutation detection.
  
  
  RESULTS
  Two novel mutations (c.863-864insT and c.881-882delAC) were identified in exon 7 of the gene, in both homozygous and compound heterozygous state in patients.
  
  
  CONCLUSIONS
  Our results supported the importance of the SLC26A4 mutations in the etiology of hearing loss among the Iranian patients and therefore its mutation screening should be considered after GJB2 in the molecular diagnostics of hearing loss, especially when enlarged vestibular aqueduct or goiter is detected.
authors.affiliation: Department of Biochemistry, Falavarjan Branch, Islamic Azad University, Isfahan, Iran.
authors.forename: Nasrin
authors.initials: N
authors.lastname: Yazdanpanahi
authors.affiliation: Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran. ; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors.forename: Mohammad Amin
authors.initials: MA
authors.lastname: Tabatabaiefar
authors.affiliation: Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Effat
authors.initials: E
authors.lastname: Farrokhi
authors.affiliation: Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Narges
authors.initials: N
authors.lastname: Abdian
authors.affiliation: Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Nader
authors.initials: N
authors.lastname: Bagheri
authors.affiliation: Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Shirin
authors.initials: S
authors.lastname: Shahbazi
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Noormohammadi
authors.affiliation: Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.
authors.forename: Morteza Hashemzadeh
authors.initials: MH
authors.lastname: Chaleshtori
keywords: Compound heterozygosity; Hearing loss; Iran; Linkage analysis; Novel mutation; Pendred syndrome; SLC26A4