Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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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
Аннотация
METHODS: We retrospectively studied the clinical and genetic data of individuals recruited from several centers with TAOK1 and TAOK2 variants that were detected through exome and genome sequencing.
RESULTS: We report 50 individuals with TAOK1 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (83%), and hypotonia (58%). We report male genital anomalies and hypoglycemia as novel phenotypes. Thirty-seven unique TAOK1 variants were identified. Most of the missense variants clustered in the protein kinase domain at residues that are intolerant to missense variation. We report 10 individuals with TAOK2 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (75%), autism (75%), and obesity (70%).
CONCLUSION: We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.