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COL2A1 encodes the α1 chain of type II collagen, a major structural protein in cartilage. Heterozygous mutations in COL2A1 have been implicated in a spectrum of type II collagenopathies, including spondylometaphyseal dysplasia subtypes. Spondylometaphyseal dysplasia, Schmidt type (MONDO:0008478), presents with metaphyseal irregularities, platyspondyly, and characteristic spinal and limb changes (COL2A1; Spondylometaphyseal Dysplasia, Schmidt Type).
To date, only a single patient has been described with spondylometaphyseal dysplasia Algerian type harboring a de novo heterozygous COL2A1 missense variant. The 5-year-old boy exhibited short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, a short trunk, and genu valgum. Radiographs showed platyspondyly, corner fractures, and metaphyseal radiolucencies intermingled with radiodensities. Genetic testing identified c.3275G>A (p.Gly1092Asp) in exon 47 (PMID:38162154). No affected relatives were reported, and functional data for this specific variant are lacking.
Gene–Disease AssociationLimitedSingle proband with characteristic clinical and radiographic features and a heterozygous COL2A1 variant ([PMID:38162154]) Genetic EvidenceLimitedOne case report describing a de novo missense variant c.3275G>A (p.Gly1092Asp) in a patient with spondylometaphyseal dysplasia features ([PMID:38162154]) Functional EvidenceLimitedNo direct functional studies of the variant in spondylometaphyseal dysplasia; mechanism inferred from type II collagenopathy models |