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1. Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Author

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., and Balasubramanian, Meena

Published
2025
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2. Expanding the phenotype and genotype spectrum of TAOK1neurodevelopmental disorder and delineating TAOK2neurodevelopmental disorder

Author

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., and Balasubramanian, Meena

Abstract

The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia, and feeding difficulties. TAOK2variants have been reported to be associated with autism and early-onset obesity. However, a distinct TAOK2-NDD has not yet been delineated.

Published
2025
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