Vivian Kao

What are the commonalities between different mutations on the SLC26A4 gene?

Started May 3, 2023

Abstract or project description

8647 different mutations of SLC26A4 have been declared, and 487 are pathogenic. The majority of mutations present in Pendred Syndrome are missense mutations, where some mutant proteins stay retained in the endoplasmic reticulum, a site of protein transport synthesis. Other possible mutations include nonsense mutation, splicing mutation, partial duplication, and insertion and deletion. These mutations do not properly transport proteins, which disrupts the protein function. Variants in mutations also reflect ethnic differences. The three founder mutations in SLC26A4 have been identified in Caucasians, which are p.Leu236Pro (26%), p.Thr416Pro(15%) and c.1001 + G>A(14%). The majority of mutations spotted in China included the C.919-2 A>G mutation and C.2168A>G mutation.