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Genetic analysis reveals RUNX2 variant causing symptoms of cleidocranial dysplasia, suggesting targeted interventions.
A deep-intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo-exon inclusion into the mRNA. The pseudo-exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
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Stojanovic et al. (2026) studied this question.
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