Haploinsufficiency of ARFGEF1is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Autor: Thomas, Quentin, Gautier, Thierry, Marafi, Dana, Besnard, Thomas, Willems, Marjolaine, Moutton, Sébastien, Isidor, Bertand, Cogné, Benjamin, Conrad, Solène, Tenconi, Romano, Iascone, Maria, Sorlin, Arthur, Masurel, Alice, Dabir, Tabib, Jackson, Adam, Banka, Siddharth, Delanne, Julian, Lupski, James R., Saadi, Nebal Waill, Alkuraya, Fowzan S., Zahrani, Fatema Al, Agrawal, Pankaj B., England, Eleina, Madden, Jill A., Posey, Jennifer E., Burglen, Lydie, Rodriguez, Diana, Chevarin, Martin, Nguyen, Sylvie, Mau-Them, Frédéric Tran, Duffourd, Yannis, Garret, Philippine, Bruel, Ange-Line, Callier, Patrick, Marle, Nathalie, Denomme-Pichon, Anne-Sophie, Duplomb, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel, Govin, Jérôme, Faivre, Laurence, Vitobello, Antonio
Zdroj: Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1901-1911, 11p
Abstrakt: ADP ribosylation factor guanine nucleotide exchange factors (ARFGEFs) are a family of proteins implicated in cellular trafficking between the Golgi apparatus and the plasma membrane through vesicle formation. Among them is ARFGEF1/BIG1, a protein involved in axon elongation, neurite development, and polarization processes. ARFGEF1has been previously suggested as a candidate gene for different types of epilepsies, although its implication in human disease has not been well characterized.
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