YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
- Denommé-Pichon, Anne-Sophie
- Collins, Stephan, C
- Bruel, Ange-Line
- Mikhaleva, Anna
- Wagner, Christel
- Vancollie, Valerie, E
- Thomas, Quentin
- Chevarin, Martin
- Weber, Mathys
- Prada, Carlos, E
- Overs, Alexis
- Palomares-Bralo, María
- Santos-Simarro, Fernando
- Pacio-Míguez, Marta
- Busa, Tiffany
- Legius, Eric
- Bacino, Carlos, A
- Rosenfeld, Jill, A
- Le Guyader, Gwenaël
- Egloff, Matthieu
- Le Guillou, Xavier
- Mencarelli, Maria, Antonietta
- Renieri, Alessandra
- Grosso, Salvatore
- Levy, Jonathan
- Dozières, Blandine
- Desguerre, Isabelle
- Vitobello, Antonio
- Duffourd, Yannis
- Lelliott, Christopher, J
- Thauvin-Robinet, Christel
- Philippe, Christophe
- Faivre, Laurence
- Yalcin, Binnaz
DOIAbstract
International audiencePurpose: Miller-Dieker syndrome is caused by a multiple-gene deletion, including PAFAH1B1 and YWHAE. While deletion of PAFAH1B1 causes lissencephaly unambiguously, deletion of YWHAE alone has not clearly been linked to a human disorder.Methods: Cases with YWHAE variants were collected through international data-sharing networks. To address the specific impact of YWHAE loss of function, we phenotyped a mouse knockout of Ywhae.Results: We report a series of 10 individuals with heterozygous loss-of-function YWHAE variants (3 SNVs, 7 deletions <1 Mb encompassing YWHAE but not PAFAH1B1), including 8 new cases and 2 follow-ups, added with 5 cases (CNVs) from literature review. While, until now, only one intragenic deletion h...
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