Article
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024
van Karnebeek Clara D M, Tarailo-Graovac Maja, Leen René, Meinsma Rutger, Correard Solenne, Jansen-Meijer Judith, Prykhozhij Sergey V, Pena Izabella A, Ban Kevin, Schock Sarah, Saxena Vishal, Pras-Raves Mia L, Drögemöller Britt I, Grootemaat Anita E, van der Wel Nicole N, Dobritzsch Doreen, Roseboom Winfried, Schomakers Bauke V, Jaspers Yorrick R J, Zoetekouw Lida, Roelofsen Jeroen, Ferreira Carlos R, van der Lee Robin, Ross Colin J, Kochan Jakub, McIntyre Rebecca L, van Klinken Jan B, van Weeghel Michel, Kramer Gertjan, Weschke Bernhard, Labrune Philippe, Willemsen Michèl A, Riva Daria, Garavaglia Barbara, Moeschler John B, Filiano James J, Ekker Marc, Berman Jason N, Dyment David, Vaz Frédéric M, Wasserman Wyeth W, Houtkooper Riekelt H, van Kuilenburg André B P
Abstract excerpt
PURPOSE: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. METHODS: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations,...
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