PPP2R5E: New gene potentially involved in specific learning disorders and myopathy

•A de novo variant of PPP2R5E gene potentially linked to specific learning disorders.•First report of a link between PPP2R5E gene and specific learning disorders.•The variant Glu191Lys was identified within a conserved motif on PPP2R5 B-subunits.•Increased spectrum of PP2A-related disease genes. Pro...

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Veröffentlicht in:	Gene 2025-01, Vol.933, p.148945, Article 148945
Hauptverfasser:	Musumeci, Antonino, Vinci, Mirella, Verbinnen, Iris, Treccarichi, Simone, Nigliato, Eleonora, Chiavetta, Valeria, Greco, Donatella, Vitello, Girolamo Aurelio, Federico, Concetta, Janssens, Veerle, Saccone, Salvatore, Calì, Francesco
Format:	Artikel
Sprache:	eng
Schlagworte:	amino acids B56ε brain Exome Sequencing family genes heterozygosity Humans Hypotonia Learning Disabilities - genetics Male muscular diseases Muscular Diseases - genetics Mutation Myopathy Neurodevelopmental delay phosphoprotein phosphatase PP2A PPP2R5E Protein Phosphatase 2 - genetics risk
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