Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kaufmann, L; Beichler, C; Blatterer, J; Janisch, I; Csapó, B; Schreiner, E; Verheyen, S; Geigl, JB; Windpassinger, C.
The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations
GENES-BASEL. 2025; 16(5): 598
Doi: 10.3390/genes16050598
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- Führende Autor*innen der Med Uni Graz
- Geigl Jochen Bernd
- Kaufmann Lukas
- Co-Autor*innen der Med Uni Graz
- Beichler Christine
- Blatterer Jasmin
- Csapo Bence Daniel
- Schreiner Elisabeth
- Verheyen Sarah
- Windpassinger Christian
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- Abstract:
- In the present study, an exceptional germline gene fusion involving the protein-coding MN1 gene and the long non-coding RNA (lncRNA) gene CPMER was detected as the genetic cause of severe cerebral abnormalities with unfavorable prognosis in a male fetus at 14 weeks of gestation. Quantitative and qualitative RNA analyses indicate the expression of C-terminally truncated MN1 proteins. MN1 proteins lacking the C-terminal amino acids have been previously described to cause an ultra-rare syndrome with brain malformations due to a gain-of-function effect. To the best of our knowledge, this is the first study reporting a germline gene fusion of a protein-coding gene and an lncRNA gene linked to a functional, but neomorphic, protein associated with severe phenotypic abnormalities. The results of our study are not only relevant for the genotype-phenotype correlation of MN1 but should especially raise awareness for potentially disease-associated protein expressions in germline gene fusions involving lncRNAs.
- Find related publications in this database (Keywords)
- gene fusion
- MN1
- lncRNA
- brain malformations