SLC26A4 and enlarged vestibular aqueduct syndrome: Genetic analysis of patients with large vestibular aqueducts in China showed that at least 1 SLC26A4 (pendrin) gene mutation was found in 95% to 97% of these patients, confirming that large vestibular aqueduct syndrome is a genetic disease with specific mutations in China.[28] However, a multi-institutional study of large vestibular aqueduct patients in the United States and England showed that only 27% of these patients had an SLC26A4 gene mutation.[29] Thus, the mutation hotspots of SLC26A4 differ between populations in different nations and areas.