Skeletal abnormalities, pediatric-onset severe osteoporosis, and multiple fragility fractures in a patient with a novel <i>CTNNB1 de novo</i> variant.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 38952406.
- Also identified by DOI 10.1016/j.bonr.2024.101777 and PMC identifier 11215946.
- Licence recorded as CC BY-NC.
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Abstract
We report a case of a patient with a <i>de novo</i> germline heterozygous truncating variant of <i>CTNNB1</i> 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 <i>CTNNB1</i>mRNA and β-catenin protein levels using real-time PCR and Western blot analysis.