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.
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Abbreviations
- HHL:
-
Hereditary hearing loss
- DFNB4:
-
Autosomal recessive non-syndromic hearing loss locus 4
- STRP:
-
Short tandem repeat polymorphisms
- SLC26A4:
-
Solute carrier family 26, member 4
- ABD:
-
Autozygosity by descent
- PDS:
-
Pendred syndrome
- GJB2:
-
Gap junction protein
- EVA:
-
Enlarged vestibular aqueduct
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Acknowledgements
We would like to thank our patients and their families for their cooperation in this research. This study was supported in part by grant no. 801 from the Genetic Research Center (University of Social Welfare and Rehabilitation Sciences), grant no. 35301 from the Research Institute for Endocrine Science (Beheshti University) and the NIDCD (RJHS, R01-DC02842).
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Kahrizi, K., Mohseni, M., Nishimura, C. et al. Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr 168, 651–653 (2009). https://doi.org/10.1007/s00431-008-0809-8
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DOI: https://doi.org/10.1007/s00431-008-0809-8