Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Clin Genet. 2022 Aug;102(2):155-156. doi: 10.1111/cge.14142. Epub 2022 May 6.

Rosangela Ferese¹, Simona Scala¹, Antonio Suppa^{1

2}, Rosa Campopiano¹, Francesco Asci^{1

2}, Maria Antonietta Chiaravalloti¹, Alessandro Zampogna², Carmelo D'Alessio¹, Filomena Fittipaldi¹, Fabio Buttari¹, Alba Di Pardo¹, Emiliano Giardina³, Stefania Zampatti³, Francesco Fornai^{1

4}, Giuseppe Novelli^{1

5}, Mirco Fanelli⁶, Chiara Zecca⁷, Giancarlo Logroscino⁷, Diego Centonze^{1

8}, Stefano Gambardella^{1

6}

¹ IRCCS Neuromed, Pozzilli, Italy.
² Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
³ Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.
⁴ Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
⁵ Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
⁶ Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.
⁷ Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, Bari University, "Pia Fondazione Card G.Panico" Lecce, Bari, Italy.
⁸ Department of Systems Medicine, Tor Vergata University, Rome, Italy.

Abstract

Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations.