… To assay the transport function of the SLC26A4 allelic variants, we used a recently described
fast fluorometric method for measuring chloride/iodide (Cl − /I − ) transport (19, 20). With …

… Pendred syndrome is one of the most frequent types of … , are responsible for both Pendred
syndrome and for allelic disorder (… EVA to be a phenotypic variant of Pendred syndrome [18]. …

… allele when present in trans to a pathogenic variant of SLC26A4. The haplotype comprises
12 variants … Generally, the patients are classified as M0 when no variant is highlighted, M1 …

… has been speculated that the misfolded allele of the protein, which is … variants affecting the
coding region or splice sites have been reported [42]. Individuals with true Pendred syndrome …

… patients in our cohort harbouring this variant demonstrated hypothyroidism or >30% PDT
(… with this variant but with an incompletely characterised mutation on the other allele had no …

… allele variants in this study (IVS8+1G>A, T416P, L597S) (Tables 4, 6). Among multiplex
families in which several affected persons had imaging studies, there was concordance for the …

… in individuals with Pendred syndrome differ functionally from … compared three common
Pendred syndrome allele variants (L236P… The mutations associated with Pendred syndrome have …

… Together with the studies of Li [36•] , Usami [37•] , and Abe [55•] that reported an enlarged
vestibular aqueduct in all patients with the allelic variants of Pendred syndrome, this study …

… allelic with Pendred syndrome (Table 1). Patients with DFNB4 display sensorineural hearing
loss with an EVA and, if formally tested, they have a positive perchlorate test despite the …

… In recent years, many pathogenic sequence variants in … ]), has been considered a disease
variant of PS,14-16 characterized by … of mutated SLC26A4 alleles in 115 Pendred syndrome/…