FIGURE

Fig. 2

ID

ZDB-FIG-250717-27

Publication

Charng et al., 2025 - Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis

Other Figures

All Figure Page

Back to All Figure Page

Fig. 2

Localisation and segregation of FNDC1 variants. Rare FNDC1 missense variants are enriched in AIS cases and segregate with incomplete penetrance in AIS families. (A) Segregation of rare FNDC1 missense variants in severe AIS families from the gene burden analysis. (B) Segregation of FNDC1 variants in additional AIS families not included in the original gene burden analysis. (C) FNDC1 variants tested in segregation analyses in this study. (D) Rare FNDC1 missense variants observed in severe AIS cases and in-house controls. Blue bars represent fibronectin type III domains. Variants enriched in severe AIS cases are marked in red and variants enriched in controls are marked in blue. Variants with equal allele count in cases and controls are marked in grey. AIS, adolescent idiopathic scoliosis; FNDC1, fibronectin type III domain containing 1.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ J. Med. Genet.