Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
Serpieri V, Vezain-Mouchard M, Orsi A, Lecointre M, Mazzotta C, Marguet F, Garbelli A, Marcorelles P, Celli L, Goldenberg A, De Mori R, Drouot N, Petrizzelli F, Janin F, Nicolas G, Smal N, Condoluci C, Marini C, Tran-Mau-Them F, Ruault V, Micalizzi A, Bione S, Mazza T, Pichiecchio A, Ginevrino M, Weckhuysen S, Bedois A, Desnous B, Hermitte L, Rabie G, Kanaan M, Gonzalez BJ, Sabbioneda S, Laquerrière A, Saugier-Veber P, Valente EM.
Serpieri V, et al.
Am J Hum Genet. 2026 Mar 5;113(3):600-615. doi: 10.1016/j.ajhg.2026.01.014. Epub 2026 Feb 19.
Am J Hum Genet. 2026.
PMID: 41720098
Free PMC article.
In neural progenitors, FSD1L localized with microtubules of the mitotic spindle during M phase and to the transition zone and along the axoneme of the primary cilium during interphase. ...
In neural progenitors, FSD1L localized with microtubules of the mitotic spindle during M phase and to the transition zone and along t …