In humans, SLC26s are known to be important for the physiology of various organs, and gene mutations in SLC26s have been shown to be associated with several autosomal recessive disorders, including diastrophic dysplasia (SLC26A2), congenital chloride diarrhea (SLC26A3), Pendred syndrome (SLC26A4), and deafness (SLC26A5) (for reviews, see [68,69]). This evidence concerns the gene SLC26A5 and diastrophic dysplasia.