Article
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Clinical genetics - 1 Apr 2026
Burkart Sebastian, Guzeloglu Tarik, Soares Ana R, Valenzuela Irene, Tizzano Eduardo F, Gómez-Andres David, Pasquier Laurent, Legendre Marine, Berges Camille, Thevenon Julien, Gauthier Marjolaine, Heid Caleb, Ranum Elly, Shen Joseph, Frees Michelle, Schmidtke Michael W, Pilar Caro, Schaaf Christian P
Abstract excerpt
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 clinical description of 12 subjects with pathogenic PRKAR1B variants, including two individuals with a heterozygous...
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