Article
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American journal of human genetics - 2 Sept 2021
Goodman Lindsey D, Cope Heidi, Nil Zelha, Ravenscroft Thomas A, Charng Wu-Lin, Lu Shenzhao, Tien An-Chi, Pfundt Rolph, Koolen David A, Haaxma Charlotte A, Veenstra-Knol Hermine E, Wassink-Ruiter Jolien S Klein, Wevers Marijke R, Jones Melissa, Walsh Laurence E, Klee Victoria H, Theunis Miel, Legius Eric, Steel Dora, Barwick Katy E S, Kurian Manju A, Mohammad Shekeeb S, Dale Russell C, Terhal Paulien A, van Binsbergen Ellen, Kirmse Brian, Robinette Bethany, Cogné Benjamin, Isidor Bertrand, Grebe Theresa A, Kulch Peggy, Hainline Bryan E, Sapp Katherine, Morava Eva, Klee Eric W, Macke Erica L, Trapane Pamela, Spencer Christopher, Si Yue, Begtrup Amber, Moulton Matthew J, Dutta Debdeep, Kanca Oguz, Wangler Michael F, Yamamoto Shinya, Bellen Hugo J, Tan Queenie K-G
Abstract excerpt
Transportin-2 (TNPO2) mediates multiple pathways including non-classical nucleocytoplasmic shuttling of >60 cargoes, such as developmental and neuronal proteins. We identified 15 individuals carrying de novo coding variants in TNPO2 who presented with global developmental delay (GDD), dysmorphic features, ophthalmologic abnormalities, and neurological features. To assess the nature of these variants, functional...
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