PMC10279880_01
The radiological findings of osteoarthritis in the proband. (A) Radiographs of the knees, ankles, left hand and foot, showing the diffuse joint-space-narrowing. (B) Radiographs and MRI of the spine, showing platyspondyly.
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F1
He also had various degrees of flattening of the vertebral bodies due to compression fracture (Figures 1A, B).
Pedigrees of the proband and the genetic characteristics of the pedigree. (A) Pedigrees of the proband (arrow indicates proband). (B) The Sanger sequencing of the family and the evolutionary conservation of the cluster across multiple species. (C)
COL11A2 variants associated with type 3 SS, variants were collected from ClinVar and previously reported (variants written in black), the pathogenic variant in the proband is marked in red (the suspected splicing mutation COL11A2 c.4750+5G > A is not shown) (https://legacy.uniprot.org/uniprot/P13942).
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F2
T and the other is c.4750 + 5G > A (Figures 2A, B). The two mutations were confirmed by Sanger's sequencing both in the proband and his parents.
A proposed model for the role of the COL11A2 c.3774C>T mutation. The red C represents the mutation site.
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F3
COL11A2 c.3774 C > T is located in a consensus sequence of 5' splice site (Figure 3).