RNA Sequencing of Urine‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta
Authors' conclusion
In conclusion, UDC are suitable for RNA transcript analysis in patients with suspected OI and can provide functional evidence for pathogenicity, in particular of variants affecting splicing.
Study context
- Population
- Children and adolescents with suspected or confirmed osteogenesis imperfecta (OI); age range 4–20 years, 21 femalesUrine-derived cells (UDC) culture successful in 40
- Participants
- 45 children
- Outcome
- RNA sequencing of urine-derived cells (UDC)
Methodological detailsRNA sequenced on an Illumina NextSeq550 device
- RNA sequenced on an Illumina NextSeq550 device
Performance
As reported in the abstract
Bone fragility genes with sufficient transcript abundance (median ≥10 transcripts per million) in UDC; similar to GTEx fibroblasts
25 of the 32
78%
Abnormal splicing in participants with pathogenic/likely pathogenic variants in the splice region or deeper in the intron
7 of the 8
Variants of uncertain significance (VUS) with abnormal splicing (COL1A1 c.2829+5G>A and COL1A2 c.693+6T>G)
2
VUS with no splice abnormality
3
Original publication
RNA Sequencing of Urine‐Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta. J Bone Miner Res. Published 23 June 2023. doi:10.
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