A non-lethal presentation of osteogenesis imperfecta type VIII due to homozygous mutation in P3H1 gene
Savita Khadse1, Prakruthi Shankaramurthy1, Nikhil Shah2,3
1Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Insights
This study reports an extremely rare case of osteogenesis imperfecta type VIII in a toddler with a P3H1 gene mutation. The child experienced multiple fractures and short stature, highlighting the importance of genetic testing for rare bone disorders.
Area of Science:
- Genetics
- Pediatrics
- Orthopedics
Background:
- Osteogenesis imperfecta (OI) encompasses a group of genetic disorders characterized by bone fragility.
- Mutations in various genes can lead to different subtypes of OI, impacting collagen production or processing.
- Autosomal recessive forms of OI are less common than autosomal dominant forms.
Observation:
- A female toddler presented with significant short stature and joint hypermobility.
- She experienced recurrent long bone fractures (five) from early infancy following minimal trauma.
- Skeletal surveys indicated features consistent with osteogenesis imperfecta.
Findings:
- Genetic analysis via clinical exome sequencing identified a pathogenic homozygous autosomal recessive P3H1 nonsense mutation.
- This genetic finding confirmed the diagnosis of osteogenesis imperfecta type VIII (OI-VIII).
- This represents an extremely rare, non-lethal presentation of OI-VIII.
Implications:
- Early genetic diagnosis is crucial for managing rare bone fragility disorders like OI-VIII.
- Treatment with cyclical pamidronate infusion was initiated for the patient.
- This case underscores the genetic heterogeneity of osteogenesis imperfecta and the significance of P3H1 mutations.
Abstract:
A female toddler presented with short stature and hypermobility of limbs. She had sustained five long bone fractures following minor trauma since early infancy. Skeletal survey was consistent with osteogenesis imperfecta. This was genetically proven on clinical exome analysis, which revealed a pathogenic homozygous autosomal recessive P3H1 nonsense mutation. She has been started on cyclical pamidronate infusion therapy. We have demonstrated an extremely rare case of non-lethal osteogenesis imperfecta VIII due to P3H1 mutation.
