Ontology highlight
ABSTRACT:
SUBMITTER: Sormann J
PROVIDER: S-EPMC9534757 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Sörmann Janina J Schewe Marcus M Proks Peter P Jouen-Tachoire Thibault T Rao Shanlin S Riel Elena B EB Agre Katherine E KE Begtrup Amber A Dean John J Descartes Maria M Fischer Jan J Gardham Alice A Lahner Carrie C Mark Paul R PR Muppidi Srikanth S Pichurin Pavel N PN Porrmann Joseph J Schallner Jens J Smith Kirstin K Straub Volker V Vasudevan Pradeep P Willaert Rebecca R Carpenter Elisabeth P EP Rödström Karin E J KEJ Hahn Michael G MG Müller Thomas T Baukrowitz Thomas T Hurles Matthew E ME Wright Caroline F CF Tucker Stephen J SJ
Nature genetics 20221004 10
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K<sup>+</sup> channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a new developmental disorder with associated sleep apnea (developmental delay with sleep apnea, or DDSA) caused by rare de novo gain-of-function mutations in KCNK3. The mutations cluster around the 'X-gate', a gating motif that controls channel opening, and pr ...[more]