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Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties
Meena Balasubramanian1,2, Nadja Fratzl-Zelman3, Rory O'Sullivan4
1Highly Specialised Severe, Complex & Atypical OI Service, Sheffield Children's NHS Foundation Trust, UK.
American Journal of Medical Genetics. Part A
|May 9, 2018
Summary
Idiopathic Juvenile Osteoporosis (IJO) is a childhood condition causing low bone mass and fractures. Genetic testing for PLS3 variants is recommended for IJO patients due to its role in bone health.
Area of Science:
- Genetics
- Bone Biology
- Pediatric Endocrinology
Background:
- Idiopathic Juvenile Osteoporosis (IJO) is characterized by significantly low bone mass in childhood with no clear cause.
- It typically presents during early puberty with fractures and reduced bone density.
Observation:
- Two patients with IJO were analyzed for clinical phenotype, genotype, and bone material.
- Patient 1, diagnosed with IJO in childhood, had a hip fracture as an adult and a PLS3 pathogenic variant.
- Patient 2, a 15-year-old with vertebral fractures and IJO suggestive bone biopsy, also has autism spectrum disorder and a PLS3 pathogenic variant.
Findings:
- Genetic analysis revealed pathogenic PLS3 variants in both patients.
- Bone biopsy in Patient 2 showed reduced trabecular volume, low bone turnover, and elevated mineralization.
- These findings suggest PLS3 plays a role in bone mineralization.
Implications:
- Genetic testing for PLS3 should be considered in patients with IJO history.
- This has implications for genetic counseling and cascade screening.
- PLS3 variants may represent a significant genetic cause of IJO, impacting bone mineralization.
Keywords:
PLS3X-linked osteoporosisbone biopsybone material propertiesfracturesidiopathic juvenile osteoporosisMore Related Videos
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