Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

ConclusionsThis study extends our understanding of KIS mechanisms demonstrating its complex etiology including gain and loss of channel function and consistent loss of channel regulation. These data are rapidly applicable to diagnostic strategies, as KIS is not identifiable from clinical features alone and thus should be molecularly diagnosed. Furthermore, our data suggests unique therapeutic strategies may be needed to address the specific functional consequences ofKCNK9 variation on channel function and regulation.

http://link.springer.com/10.1186/s13073-022-01064-4

Source: Genome Medicine - June 13, 2022 Category: Genetics & Stem Cells Source Type: research