Functional Characterization of Novel <i>Lunatic Fringe</i> Variants in Spondylocostal Dysostosis Type-III with Scoliosis.

ABSTRACT: Scoliosis affects over four million Americans, with most cases having an idiopathic cause. Pathogenic variants in the LUNATIC FRINGE (LFNG) gene can cause spondylocostal dysostosis type-III (SCD3), which is a rare skeletal dysplasia characterized by the absence, fusion, or partial development of vertebrae and ribs. Acute restrictive lung disease and scoliosis may also be present in some cases. The variability in symptoms suggests that there may be other underlying pathological mechanisms that are yet to be discovered. We conducted an analysis of two novel LFNG variants, c.766G>A (p.G256S) and c.521G>A (p.R174H), that were observed in a patient with SCD3 phenotype and scoliosis. Characterizing these variants can help us better understand the relationship between genotyp

SUBMITTER: Wengryn P 

PROVIDER: S-EPMC11919168 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature