Article
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2023
Langhammer Franziska, Maroofian Reza, Badar Rueda, Gregor Anne, Rochman Michelle, Ratliff Jeffrey B, Koopmans Marije, Herget Theresia, Hempel Maja, Kortüm Fanny, Heron Delphine, Mignot Cyril, Keren Boris, Brooks Susan, Botti Christina, Ben-Zeev Bruria, Argilli Emanuela, Sherr Elliot H, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Bakhtiari Somayeh, Kruer Michael C, Salih Mustafa A, Kuechler Alma, Muller Eric A, Blocker Karli, Kuismin Outi, Park Kristen L, Kochhar Aaina, Brown Kathleen, Ramanathan Subhadra, Clark Robin D, Elgizouli Magdeldin, Melikishvili Gia, Tabatadze Nazhi, Stark Zornitza, Mirzaa Ghayda M, Ong Jinfon, Grasshoff Ute, Bevot Andrea, von Wintzingerode Lydia, Jamra Rami A, Hennig Yvonne, Goldenberg Paula, Al Alam Chadi, Charif Majida, Boulouiz Redouane, Bellaoui Mohammed, Amrani Rim, Al Mutairi Fuad, Tamim Abdullah M, Abdulwahab Firdous, Alkuraya Fowzan S, Khouj Ebtissal M, Alvi Javeria R, Sultan Tipu, Hashemi Narges, Karimiani Ehsan G, Ashrafzadeh Farah, Imannezhad Shima, Efthymiou Stephanie, Houlden Henry, Sticht Heinrich, Zweier Christiane
Abstract excerpt
PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. METHODS: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense...
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