Skeletal abnormalities, pediatric-onset severe osteoporosis, and multiple fragility fractures in a patient with a novel CTNNB1 de novo variant.
Lesnyak O., Marini F., Sokolnikova P., Sorokina M., Sukhareva K., Artamonova I.
Case Report / Series, published in Bone Rep (2024) — summary generated from the PubMed abstract.
Early human evidence such as case series or small samples is exploring possible benefits.
- Level A · Stronger Clinical Evidence
- Level B · Emerging clinical evidence with positive signals
- Level C · Early human research exploring benefits
- Level D · Scientific groundwork from lab and animal studies
- Emerging · Emerging topic under active research
This page is generated from the PubMed record. The Thai description is an automated summary of bibliographic fields and the abstract, not a full translation, and is not medical advice.
- Study type
- Case Report / Series
- Journal
- Bone Rep (2024)
- Country
- United States
- Reported sample size
- —
- Source database
- PubMed
- PMID
- 38952406
- DOI
- 10.1016/j.bonr.2024.101777
Abstract (original English)
We report a case of a patient with a de novo germline heterozygous truncating variant of CTNNB1 gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental disorder with spastic diplegia and visual defects syndrome (NEDSDV) associated with a new clinical feature - severe pediatric-onset osteoporosis and multiple fractures. A functional effect of the identified variant was demonstrated using adipose-tissue derived primary mesenchymal stem cells, where we detected the alteration of CTNNB1 mRNA and β-catenin protein levels using real-time PCR and Western blot analysis.
What this study does not prove
- • This study does not prove SVF is an approved treatment or a replacement for standard care.
- • Without an adequate control group, treatment effects cannot be separated from other factors.
Evidence level
Early human evidence such as case series or small samples is exploring possible benefits.
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