Article
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures.
American journal of human genetics - 7 Apr 2022
Lu Shenzhao, Hernan Rebecca, Marcogliese Paul C, Huang Yan, Gertler Tracy S, Akcaboy Meltem, Liu Shiyong, Chung Hyung-Lok, Pan Xueyang, Sun Xiaoqin, Oguz Melahat Melek, Oztoprak Ulkühan, de Baaij Jeroen H F, Ivanisevic Jelena, McGinnis Erin, Guillen Sacoto Maria J, Chung Wendy K, Bellen Hugo J
Abstract excerpt
TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin cytoskeletal network. To date, TIAM1 has not been associated with a Mendelian disorder. Here, we describe five individuals with bi-allelic TIAM1 missense variants who have developmental delay, intellectual disability, speech delay, and seizures....
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