Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

doi:10.1111/cge.14336

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Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.

Clinical genetics - 1 Aug 2023

Lecca Mauro, Bedeschi Maria Francesca, Izzi Claudia, Dordoni Chiara, Rinaldi Berardo, Peluso Francesca, Caraffi Stefano Giuseppe, Prefumo Federico, Signorelli Marino, Zanzucchi Matteo, Bione Silvia, Ghigna Claudia, Sassi Silvia, Novelli Antonio, Valente Enza Maria, Superti-Furga Andrea, Garavelli Livia, Errichiello Edoardo

Abstract excerpt

Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi-allelic variants in one of the genes involved in the Notch signaling pathway that tunes the "segmentation clock" of somitogenesis: DLL3, HES7, LFNG, MESP2, RIPPLY2, and TBX6. To date, seven individuals with LFNG variants have been reported in the literature. In this...

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PMID: 37038048
DOI: 10.1111/cge.14336

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