Article
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2025
Elkhateeb Nour, Crookes Renarta, Spiller Michael, Pavinato Lisa, Palermo Flavia, Brusco Alfredo, Parker Michael, Park Soo-Mi, Mendes Ariana Costa, Saraiva Jorge M, Hammer Trine Bjørg, Nazaryan-Petersen Lusine, Barakat Tahsin Stefan, Wilke Martina, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Li Dong, Nomakuchi Tomoki, Brilstra Eva H, Hunt David, Johnson Diana, Mansour Sahar, Oprych Kathryn, Mehta Sarju G, Platzer Konrad, Schnabel Franziska, Kiep Henriette, Faust Helene, Prinzing Gillian, Wiltrout Kimberly, Radley Jessica A, Serrano Russi Alvaro H, Atallah Isis, Campos-Xavier Belinda, Amor David J, Morgan Angela T, Fagerberg Christina, Andersen Ulla A, Andersen Charlotte B, Bijlsma Emilia K, Bird Lynne M, Mullegama Sureni V, Green Andrew, Isidor Bertrand, Cogné Benjamin, Kenny Janna, Lynch Sally A, Quin Shauna, Low Karen, Herget Theresia, Kortüm Fanny, Levy Rebecca J, Morrison Jennifer L, Wheeler Patricia G, Narumanch TaraChandra, Peron Kristina, Matthews Nicole, Uhlman Jillian, Bell Lauren, Pang Lewis, Scurr Ingrid, Belles Rebecca S, Salbert Bonnie Anne, Schaefer Gerald Bradley, Green Sarah, Ros Andrea, Rodríguez-Palmero Agustí, Višnjar Tanja, Writzl Karin, Vasudevan Pradeep C, Balasubramanian Meena
Abstract excerpt
PURPOSE: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia, and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset...
Topics
- Humans
