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Background  Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism.    Methods and Results  Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes,  SLC26A4  (ENST265715:c.1343C > T, p.Ser448Leu) and  GJB2  (ENST382844:c.368C > A, p.Thr123Asn) from their father, as well as another deafness-related gene,  SCARB2  (ENST264896:c.914C > T, p.Thr305Met) from their mother. We postulated that these three heterozygous mutations in combination may be causative to deafness, and warrants further investigation. Furthermore, we also identified a compound heterozygosity involving the  DUOX2  gene (ENST603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. All the candidate mutations were predicted deleterious by in silico tools.    Conclusions  In summary, we proposed that PDS in this family could be a polygenic disorder which possibly arises from a combination of heterozygous mutations in  SLC26A4, GJB2  and  SCARB2  which associated with deafness, as well as compound heterozygous  DUOX2  mutations which associated with thyroid dysfunction.    Electronic supplementary material  The online version of this article (doi:10.1186/s13023-017-0575-7) contains supplementary material, which is available to authorized users.

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family