title: SLC26A4 mutations in patients with moderate to severe hearing loss.
abstract: Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss. We identified a link between hearing loss and DFNB4 in 3 of the 50 families participating in this study. Sequencing analysis revealed two SLC26A4 mutations, p.V239D and p.S57X, in affected members of the 3 families. These mutations have been previously reported in deaf individuals from the subcontinent, all of whom manifested profound deafness. The patients investigated in our study exhibited moderate to severe hearing loss. Our results show that inactivating SLC26A4 mutations that cause profound deafness can also be involved in the etiology of moderate to severe hearing loss. The type of mutation cannot predict the severity of the hearing loss in all cases, and there may be additional epistatic interactions that could modify the phenotype.
authors.affiliation: School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore 54590, Pakistan.
authors.forename: Muhammad Riaz
authors.initials: MR
authors.lastname: Khan
authors.forename: Rasheeda
authors.initials: R
authors.lastname: Bashir
authors.forename: Sadaf
authors.initials: S
authors.lastname: Naz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004843:Epistasis, Genetic; D005260:Female; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters