title: Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
abstract: Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative for mutations in GJB2 at the DFNB1 locus and were, therefore, screened for autozygosity by descent (ABD) using short tandem repeat polymorphisms (STRPs) that flanked SLC26A4. In 12 families, homozygosity for STRPs suggested possible ABD in this genomic region. Affected individuals in five families had a positive perchlorate discharge test. Sequence analysis of SLC26A4 identified ten mutations in eight families (T420I, 1197delT, G334V, R409H, T721M, R79X, S448L, L597S, 965insA and L445W), of which, four are novel (T420I, G334V, 965insA and R79X). These results imply that Pendred syndrome is the most prevalent form of syndromic hereditary hearing loss in Iran.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Kimia
authors.initials: K
authors.lastname: Kahrizi
authors.forename: Marzieh
authors.initials: M
authors.lastname: Mohseni
authors.forename: Carla
authors.initials: C
authors.lastname: Nishimura
authors.forename: Niloofar
authors.initials: N
authors.lastname: Bazazzadegan
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Fischer
authors.forename: Atefeh
authors.initials: A
authors.lastname: Dehghani
authors.forename: Morteza
authors.initials: M
authors.lastname: Sayfati
authors.forename: Maryam
authors.initials: M
authors.lastname: Taghdiri
authors.forename: Payman
authors.initials: P
authors.lastname: Jamali
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Fereydoun
authors.initials: F
authors.lastname: Azizi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D001692:Biological Transport / Q000235:genetics; D000072259:Connexin 26; D017630:Connexins; D034381:Hearing Loss / Q000151:congenital / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007492:Iran; D026901:Membrane Transport Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters; D013577:Syndrome; D014723:Vestibular Aqueduct / Q000473:pathology
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26