Article
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Nature genetics - 1 Oct 2022
Sörmann Janina, Schewe Marcus, Proks Peter, Jouen-Tachoire Thibault, Rao Shanlin, Riel Elena B, Agre Katherine E, Begtrup Amber, Dean John, Descartes Maria, Fischer Jan, Gardham Alice, Lahner Carrie, Mark Paul R, Muppidi Srikanth, Pichurin Pavel N, Porrmann Joseph, Schallner Jens, Smith Kirstin, Straub Volker, Vasudevan Pradeep, Willaert Rebecca, Carpenter Elisabeth P, Rödström Karin E J, Hahn Michael G, Müller Thomas, Baukrowitz Thomas, Hurles Matthew E, Wright Caroline F, Tucker Stephen J
Abstract excerpt
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K+ 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...
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