Deep‐Intronic Variant in <scp> <i>RUNX2</i> </scp> Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia
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.
Authors
- Dorota Garczarczyk‐Asim
- Julia Vodopiutz (ORCID: https://orcid.org/0000-0002-8087-7026)
- Andreas Janecke (ORCID: https://orcid.org/0000-0001-7155-0315)
- Dorothea Stojanovic
Institutions
- Innsbruck Medical University (AT)
- Universität Innsbruck (AT)
- Comprehensive Cancer Center Vienna (AT)
- BOC (Austria) (AT)
- Medical University of Vienna (AT)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2026-03-08
- DOI
- https://doi.org/10.1111/cge.70158
- Primary Topic
- Bone Metabolism and Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00