Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype
Our data indicate that intrauterine growth restriction as the prenatal phenotype of upd(7)mat is caused by defective paternal alleles of the 7q32 region, as well as by overexpression of the maternal GRB10 allele whereas a defective GRB10 paternal allele does not cause this feature. The altered expression of MEST in 7q32 by upd(7)mat is associated with the complete SRS phenotype, whereas maternalization or deletion of the paternal GRB10 copy and duplication of the chromosomal region 7p12 are associated with a postnatal SRS-like phenotype.
Authors
- Jeremias Krause (ORCID: https://orcid.org/0000-0001-9915-7400)
- Anna Lengyel (ORCID: https://orcid.org/0000-0002-3477-7411)
- Thomas Eggermann (ORCID: https://orcid.org/0000-0002-8419-0264)
- Florian Kraft (ORCID: https://orcid.org/0000-0002-5324-9155)
- Matthias Begemann (ORCID: https://orcid.org/0000-0002-4659-8437)
- Miriam Elbracht (ORCID: https://orcid.org/0000-0001-5088-1369)
- Éva Pinti (ORCID: https://orcid.org/0000-0002-5724-6859)
- Árpád Ferenc Kovács (ORCID: https://orcid.org/0000-0002-7742-160X)
- Svea Stratmann (ORCID: https://orcid.org/0000-0002-7438-9093)
- György Fekete
Institutions
- Semmelweis University (HU)
- Uppsala University (SE)
- Science for Life Laboratory (SE)
- RWTH Aachen University (DE)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2025-04-30
- DOI
- https://doi.org/10.1186/s13148-025-01867-3
- Citations
- 2
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Deutsche Forschungsgemeinschaft