- Titel
- Case report: Complete paternal isodisomy on chromosome 18 induces methylation changes in PARD6G-AS1 promotor in a case with arthrogryposis
- Zitierfähige Url:
- https://nbn-resolving.org/urn:nbn:de:bsz:15-qucosa2-1005992
- Quellenangabe
- Frontiers in Genetics
Erscheinungsjahr: 2023
Jahrgang: 14
Seiten: 1-6
ISSN: 1664-8021
Artikelnummer: 1297754 - Erstveröffentlichung
- 2023
- Abstract (EN)
- Uniparental disomy (UPD) is the inheritance of both alleles of a chromosome from only one parent. So far, the detection of UPDs in sequencing data is not well established and a known gap in next-generation sequencing (NGS) diagnostics. By developing a new tool for UPD detection, we re-evaluated an eight-year-old individual presenting with scoliosis, muscle weakness and global developmental delay. Previous panel analysis identified a homozygous likely pathogenic loss-offunction variant in the PIEZO2-gene associated with arthrogryposis (OMIM# 617146). Interestingly, during a re-evaluation process, we identified a region of homozygosity (ROH) covering over 95% of chromosome 18. Segregation andmicrosatellite analysis within the family revealed that only the father is a heterozygous carrier of the variant in PIEZO2 and confirmed paternal uniparental isodisomy (iUPD) on chromosome 18 in the individual. Further methylation analysis indicated demethylation of the promotor region of PARD6G-AS1, which is described to be maternally imprinted and could possibly influence the individuals’ phenotype. Our report describes the first complete iUPD on chromosome 18 and highlights that UPDs can be a cause for homozygous pathogenic variants, which reduces the risk of reoccurrence in case of a new pregnancy in comparison to an autosomal recessive inheritance trait significantly.
- Andere Ausgabe
- Erstveröffentlichung
DOI: 10.3389/fgene.2023.1297754 - Freie Schlagwörter (EN)
- uniparental disomy, allele frequency, imprinting, gene regulation, next-generationsequencing, methylome, case report
- Klassifikation (DDC)
- 570
- Verlag
- Frontiers Media S.A., Lausanne
- Version / Begutachtungsstatus
- publizierte Version / Verlagsversion
- URN Qucosa
- urn:nbn:de:bsz:15-qucosa2-1005992
- Veröffentlichungsdatum Qucosa
- 27.11.2025
- Dokumenttyp
- Artikel
- Sprache des Dokumentes
- Englisch
- Lizenz / Rechtehinweis
CC BY 4.0