ArticleHuman genome variation2026
Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.
Article in Human genome variation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cleidocranial dysplasia is an autosomal dominant disorder caused by RUNX2 variants. We report a Japanese boy with enlarged fontanelles in infancy, initially suspected of hypophosphatasia. Exome sequencing identified a novel de novo RUNX2 splice-site variant (c.685+2T>G), affecting the canonical donor site, and predicted to disrupt splicing. This novel variant expands the mutational spectrum of RUNX2-associated cleidocranial dysplasia and highlights the value of early genetic diagnosis.
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