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Expansion of the phenotypic and genotypic spectrum for PRKAR1B-related Marbach-Schaaf neurodevelopmental syndrome: a case series

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Marbach-Schaaf neurodevelopmental syndrome (MASNS) is an ultra-rare, monogenic disease caused by pathogenic variation in PRKAR1B, which codes for the R1β regulatory subunit of protein kinase A (PKA), a key effector of cAMP signaling within the nervous system. This work provides a comprehensive clini...

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Main Authors: Burkart, Sebastian (Author) , Guzeloglu, Tarik (Author) , Soares, Ana R. (Author) , Valenzuela, Irene (Author) , Tizzano, Eduardo F. (Author) , Gómez-Andres, David (Author) , Pasquier, Laurent (Author) , Legendre, Marine (Author) , Berges, Camille (Author) , Thevenon, Julien (Author) , Gauthier, Marjolaine (Author) , Heid, Caleb (Author) , Ranum, Elly (Author) , Shen, Joseph (Author) , Frees, Michelle (Author) , Schmidtke, Michael W. (Author) , Caro, Pilar (Author) , Schaaf, Christian P. (Author)
Format: Article (Journal)
Language:English
Published: 29 October 2025
In: Clinical genetics
Year: 2025, Pages: 1-18
ISSN:1399-0004
DOI:10.1111/cge.70094
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1111/cge.70094
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.70094
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Author Notes:Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez-Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf
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A novel subgroup of UCHL1-related cancers is associated with genomic instability and sensitivity to DNA-damaging treatment by Burkart, Sebastian (Author) , Weusthof, Christopher (Author) , Khorani, Karam (Author) , Steen, Sonja (Author) , Stögbauer, Fabian (Author) , Unger, Kristian (Author) , Hess, Julia (Author) , Zitzelsberger, Horst (Author) , Belka, Claus (Author) , Kurth, Ina (Author) , Heß, Jochen (Author) ,


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