Myo6^ksv

A spontaneous mutation, c.1381G>A, was identified, which is a missense mutation that changes glutamic acid residue at position 461 to a lysine residue (p.E461K). This mutation was identified at the last position of exon 12, one base before the splice-donor site. RT-PCR of cochlear and vestibular RNA indicates the production of abnormally alternatively spliced isoforms (at least 4 isoforms) and qRT-PCR indicates lower amounts of RNA. Western blot analysis confirmed decreased protein levels. (J:245687)