… However, we noticed that both mutations are located within helical domains that have a
constant length (21 amino acids) in the pendrin protein. So, we deduced that the size of the …

… Based on molecular and functional characterization of isoform-specific mouse models of the
… aqueduct characteristic of Pendred syndrome. Mutations with transcriptional effects were …

… Testing of the function of pendrin variants found in deaf … for the East Asian population founder
mutation p.H723R, as well … pendrin-linked hearing loss, we characterized the ion transport …

… Similarly, a missense mutation in GATA3 was present in a … Mutations of the PDS gene,
encoding pendrin, are associated … iodide efflux: implications for thyroid dysfunction in Pendred …

… Consistent with our findings (Table 1), consanguinity was found to … Map representing the
spectrum of mutated genes in Arab … , Palestine, and Tunisia in patients with Pendred syndrome …

… in SLC26A4 gene cause AR NSHL and Pendred syndrome (86), … clinical significance of the
VUSs detected in our study cohort. … of PDS (SLC26A4) mutations in Pendred syndrome and …

… of the effect of rare founder mutations 7,9 . The present study was performed with the aim
of characterizing genetically a cohort of 17 consanguineous Iranian families with IRDs. …

… participantks audiologic care, I present informative audioprofiles for over 40 … functional
characterization. In Chapter , I outline my efforts to identify and characterize two novel mutations …

… LoF whereas dominant mutations lead to a gain of function [11]. 1.2.3 Population frequency
of … , there have been many underrepresented populations in the available databases. Thus, …

… and population distributions of variants were further checked by querying available population-
and … The loss of function (LoF) mutation has been suggested as the main pathological …