Table 1

Clinical information, genotype data (HLA-B27, SEC16A and MAMDC4) of the large, well-characterised, multigenerational family with numerous individuals clinically diagnosed with and without AxSpA

Family memberDiagnosis (Dx)Extra-articular featuresAge of onset (years)SEC16A/MAMDC4 statusHLA-B27 status
I-2UnaffectedN/AHet/HetNegative
II-1AxSpANone26Het/HetPositive
II-2UnaffectedN/AWt/WtNegative
II-4AxSpANone12Het/HetPositive
II-6AxSpAPsoriasis27Het/HetPositive
II-8AxSpALupus12Het/HetPositive
II-9AxSpANone30Het/HetPositive
II-11UnaffectedN/AWt/WtPositive
II-13AxSpAIritis35Wt/WtPositive
II-15UnaffectedN/AN/AWt/WtPositive
II-17AxSpACrohn's35Wt/WtPositive
II-19AxSpAIritisN/AHet/HetPositive
II-21UnaffectedN/AWt/WtPositive
II-23UnaffectedN/AWt/WtPositive
III-2AxSpANone14Het/HetPositive
  • Detailed information is provided for only the second generation and one individual (III-2) in the third generation.

  • AxSpA, axial spondyloarthritis; Het, heterozygous for deletion; N/A, information not available; Wt, wild-type (no deletion).