Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

doi:10.1016/j.ajhg.2026.01.014

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Article

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

American journal of human genetics - 5 Mar 2026

Serpieri Valentina, Vezain-Mouchard Myriam, Orsi Alessia, Lecointre Maryline, Mazzotta Concetta, Marguet Florent, Garbelli Anna, Marcorelles Pascale, Celli Ludovica, Goldenberg Alice, De Mori Roberta, Drouot Nathalie, Petrizzelli Francesco, Janin François, Nicolas Gaël, Smal Noor, Condoluci Claudia, Marini Carla, Tran-Mau-Them Frederic, Ruault Valentin, Micalizzi Alessia, Bione Silvia, Mazza Tommaso, Pichiecchio Anna, Ginevrino Monia, Weckhuysen Sarah, Bedois Alice, Desnous Béatrice, Hermitte Laurent, Rabie Grace, Kanaan Moien, Gonzalez Bruno J, Sabbioneda Simone, Laquerrière Annie, Saugier-Veber Pascale, Valente Enza Maria

Abstract excerpt

Disruption of the complex processes underlying central nervous system development leads to a broad spectrum of brain malformations and neurodevelopmental disorders, often with a genetic cause. Here, we report bi-allelic pathogenic variants in fibronectin type III and SPRY domain-containing 1-like (FSD1L), encoding a protein of unknown function, in eleven individuals, including five fetuses from six unrelated...

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Identifiers

PMID: 41720098
DOI: 10.1016/j.ajhg.2026.01.014
PMCID: PMC13087397

Genes

FSD1L
L1CAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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