Fig. 2

Pedigree of family SYD07 and radiographs of individual III:1 at 32 years of age. a Pedigree: Black symbols indicate affected individuals. Genotypes of the identified variant for all participants are provided below the symbols. Carriers of the variants are depicted with black dots inside the circles or squares. b Radiographs of patient III:1: X-Ray of left hand showing capitate hamate (Carpal bones) fusion. c Anteroposterior view of the left foot showing tarsal fusion. d Anteroposterior view of the spine showing scoliosis with fusion of vertebrae at thoracic and lumbar region. e Lateral view of the spine showing lordosis. f Chromatogram of the FLNB showing c.2911dupG variant. Arrows indicate the point of variant from wild type to heterozygous carrier and in homozygous affected individual. g RT qPCR from whole blood samples of an unaffected heterozygous carrier and two homozygous affected individuals in the family SYD07 demonstrates that the variant c.2911dupG decreases FLNB expression. Significant fold change (p < 0.05, p = 0.0003) is denoted with three asterisks