Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

ABSTRACT: Metaphyseal chondrodysplasia type Schmid (MCDS), a rare skeletal disorder caused by COL10A1 mutations, exhibits significant phenotypic heterogeneity, yet genotype-phenotype correlations remain poorly defined. We aim to determine the clinical and radiographic manifestation, mutational features, and genotype-phenotype relationships by characterization of 4 patients with MCDS and literature review. The four patients presented with short stature or waddling gait, flattened vertebrae, and irregular femoral epiphyses. We identified two novel COL10A1 variants (c.1925 T > A, c.1903C > G) and reported the first case harboring both a de novo nonsense (c.2001 T > G, p.Tyr667Ter) in the non-collagenous 1 (NC1) domain and a missense (c.1438A > T, p.Ile480Leu) in the helix domain. Genotype-phenotype ana

SUBMITTER: Meng L 

PROVIDER: S-EPMC12743679 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature