ZFIN Image: Charng et al., 2025, Fig. 2

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Figure Caption

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.

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